ClinVar Miner

Submissions for variant NM_020989.4(CRYGC):c.143G>A (p.Arg48His) (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, Partners HealthCare 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 Institute Rare Disease Group, Broad Institute 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 2020-11-11 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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