ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.38T>G (p.Val13Gly) (rs1593351795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001343 SCV001158537 uncertain significance not specified 2019-06-07 criteria provided, single submitter clinical testing The GJB2 c.38T>G; p.Val13Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 13 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variant at this codon (c.37G>A; p.Val13Met) has been reported in the compound heterozygous state in an individual from a large hearing loss cohort (Putcha 2007). However, due to limited information, the clinical significance of the p.Val13Gly variant is uncertain at this time. References: Putcha GV et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul;9(7):413-26.

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