Table 1.
NLRP5 variants detected in two mothers of SRS patients with ICR1 LOM. Summary of the frequencies in public databases and bioinformatic prediction of their pathogenicity
| Patient ID | Variant location GRCh37(hg19) | Gene | Variant info | dbSNP (150)/LOVD | gnomAD All | SIFT | PolyPhen2 | Mutation taster | Inheritance |
|---|---|---|---|---|---|---|---|---|---|
| SRS-35M LOVD: 00164469 | Chr19(GRCh37): g.56515087 T > A | NLRP5 | NM_153447.4:c.68 T > A p.(Val23Asp) | rs753824534 LOVD: #0000369000 | 0.00087% | Deleterious (score 0) | Pathogenic (0.991) | Polymorphism | Inherited to the patient |
| SRS-38M LOVD: 00165246 | Chr19(GRCh37): g.56565134 G > A | NLRP5 | NM_153447.4:c.3259 G > A p.(Glu1087Lys) | rs762535392 LOVD: #0000166124 | 0.00081% | Tolerated (score 0.18) | Benign (0.028) | Polymorphism | Only in the mother |