ClinVar Miner

Submissions for variant NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)

dbSNP: rs121909595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803517 SCV000943395 pathogenic Aculeiform cataract 2021-08-15 criteria provided, single submitter clinical testing This variant disrupts the p.Arg15 amino acid residue in CRYGD. Other variant(s) that disrupt this residue have been observed in individuals with CRYGD-related conditions (PMID: 19668596, 28450710), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. This sequence change replaces arginine with cysteine at codon 15 of the CRYGD protein (p.Arg15Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with congenital and juvenile onset cataract in families (PMID: 16446699, 9927684 ). This variant is also known as c.34C>T, p.R14C in the literature. ClinVar contains an entry for this variant (Variation ID: 16937). This variant has been reported to affect the CRYGD protein function (PMID: 19382745, 10688888 ). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003328551 SCV004035767 pathogenic not provided 2023-03-17 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Pande et al., 2000); Not observed at significant frequency in large population cohorts (gnomAD); This variant has been reported in the published literature using alternate nomenclature R14C; This variant is associated with the following publications: (PMID: 19382745, 19007775, 20577655, 29652984, 18035564, 26732753, 32899552, 21423869, 24384146, 29222017, 10688888, 23954869, 34150533, 19668596, 24465161, 20508808, 16446699, 32148946, 9927684)
OMIM RCV000018445 SCV000038727 pathogenic Cataract 4 multiple types 2007-09-01 no assertion criteria provided literature only

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