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. 2022 Aug 26;7(1):e001064. doi: 10.1136/bmjophth-2022-001064

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Families with variants of uncertain significance that have evidence towards pathogenicity. Families with gap junction variants include: (A) GJA8 p.(Gly22Ser) in family CRCH137, (B) GJA8 p.(Lys131del) in family CTAS71 shown in ‘R’ for sequencing with reverse primer, and (C) GJA3 p.(Gln15Lys) in family CSA192. Five families were observed to have variants of uncertain significance in other cataract associated genes. (D) family CRVEEH79 with a start loss variant in the LEMD2 gene. (E) Family CSA93 with a segregating PRX p.(Arg129His) change. (F) Family CTAS34 with a segregating CRYBB1 p.(Ile94Asn) variant and MIP variant was also observed but also present in an unaffected individual. (G) family CQLD130 with a BFSP2 p.(Arg89Trp) variant that is also observed in unaffected CQLD130-04 and is acting with possible reduced penetrance. (H) In family CRCH4 a MIP p.(Arg113Gln) variant was observed in the two affected individuals and obligate heterozygote CRCH4-03, as well as, unaffected siblings CRCH4-06 and CRCH4-08.