ClinVar Miner

Submissions for variant NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)

gnomAD frequency: 0.00004  dbSNP: rs28931604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000018454 SCV001136155 uncertain significance Cataract 2, multiple types 2019-05-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000018454 SCV001435232 likely benign Cataract 2, multiple types criteria provided, single submitter research The heterozygous p.Arg168Trp variant in CRYGC has been identified in 2 relatives from 1 family with cataracts (PMID: 12011157), but has also been identified in >1% of chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal dominant cataracts.
Labcorp Genetics (formerly Invitae), Labcorp RCV001313043 SCV001503518 uncertain significance Nuclear pulverulent cataract 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 168 of the CRYGC protein (p.Arg168Trp). This variant is present in population databases (rs28931604, gnomAD 1.2%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with congenital cataracts (PMID: 17679936, 18587492). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16945). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000018454 SCV000038736 uncertain significance Cataract 2, multiple types 2007-07-26 no assertion criteria provided literature only

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