Table 3.
New diagnoses in this cohort
| Patient ID | Gene | Reference | Allele 1* | Allele 2 | Inheritance | Time to diagnosis | Family history | Date of report | Reason to upgrade | Reference; Published date |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | MYO15A | NM_016239.3 | c.10245_10247delCTC; p.Ser3417del | c.9314_9315insC; p.His3106Profs*2 | AR | 3 y | No | September 2016 | New publication | PMID29482514; February 2018 |
| 2 | MYO15A | NM_016239.3 | c.10245_10247delCTC; p.Ser3417del | c.10245_10247delCTC; p.Ser3417del | AR | 27 y | YES | March 2017 | New publication | PMID29482514; February 2018 |
| 3 | MYO7A | NM_000260.3 | c.3671C > A; p. Ala1224Asp | c.397dupC; p. His133Profs*7 | AR | 4 y | YES | July 2015 | New publication | PMID26968074; April 2016 |
| 4 | MITF | NM_198159.2 | c.1021C > G; p.Arg341Gly | N/A | AD | 29 y | No | August 2016 | New publication | PMID29484430; January 2018 and PMID30394532; November 2018 |
| 5 | MITF | NM_198159.2 | c.1021C > T; p.Arg341Cys | N/A | AD | 5 y | No | December 2014 | New publication | PMID27057829; April 2016 |
| 6 | TMC1 | NM_138691.2 | c.1250G > A; p. Gly417Glu | c.1250G > A; p.Gly417Glu | AR | 48 y | YES | November 2015 | ACMG/AMP Guidelines (PM5) | PMID25741868; May 2015 |
| 7 | CDH23 | NM_022124.5 | c.1037C > G; p. Pro346Arg | c.489delA; p. Gly165Alafs*25 | AR | 21 y | YES | July 2015 | ACMG/AMP Guidelines (PM5) | PMID25741868; May 2015 |
| 8 | PAX3 | NM_001127366.2 | c.870_871insC; p. Gly292Argfs*118 | N/A | AD | 26 y | No | January 2017 | Expanded analysis | N/A |
| 9 | TMC1 | NM_138691.2 | EX6_EX10, DEL | c.1333C > T | AR | 8 y | No | December 2014 | Expanded analysis | N/A |
*Variants of allele 1 were those upgraded from variants of uncertain significance to likely pathogenic. PM5 denotes a pathogenic moderate criterion from the variant interpretation guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. AR autosomal recessive. AD autosomal dominant. N/A Not applicable