ClinVar Miner

Submissions for variant NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)

dbSNP: rs1184398243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000754763 SCV005834663 likely pathogenic Cataract 20 multiple types 2024-09-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 39 of the CRYGS protein (p.Ser39Cys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individuals with congenital cataracts (PMID: 18587492; internal data). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 617600). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CRYGS function (PMID: 32234236, 33004175). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000754763 SCV000882653 pathogenic Cataract 20 multiple types 2019-01-31 no assertion criteria provided literature only

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