ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)

dbSNP: rs2137378339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002007005 SCV002294415 uncertain significance Dilated cardiomyopathy 1II 2021-10-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 168 of the CRYAB protein (p.Ala168Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Genetics and Molecular Pathology, SA Pathology RCV002466738 SCV002761659 uncertain significance Myofibrillar myopathy 2 2021-10-25 criteria provided, single submitter clinical testing

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