ClinVar Miner

Submissions for variant NM_020989.4(CRYGC):c.143G>A (p.Arg48His)

gnomAD frequency: 0.01047  dbSNP: rs61751949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455912 SCV000538739 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 4/4 individuals (1 family ) affected with AD pulvurent congenital cataract and was absent from 10 healthy relatives and 230 ethnically matched healthy controls (Gonzalez-Huerta_2013). It has also been reported in 4/30 cases og congenital cataract (Kumar_2011). The exact prevalence of congenital cataract is unknown but estimated around 1-6/10,000 children. The frequency of the variant in South Asians in 5.3%.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258282 SCV001435207 benign Usher syndrome type 2C criteria provided, single submitter research The heterozygous p.Arg48His variant in CRYGC has been identified in 4 individuals with cataracts in the literature (PMID: 21423869). However, this variant is classified as benign for autosomal dominant cataracts because it has been identified in >5% of South Asian chromosomes by ExAC (http://gnomad.broadinstitute.org/).
Invitae RCV001523398 SCV001733094 benign Nuclear pulverulent cataract 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001724007 SCV001950469 benign not provided 2018-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23954869, 21423869, 27884173, 27535533, 29386872)

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