ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)

dbSNP: rs781902168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238547 SCV001411365 uncertain significance Dilated cardiomyopathy 1II 2024-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 11 of the CRYAB protein (p.Arg11Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 964348). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224032 SCV002502330 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491775 SCV002792963 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034579 SCV005018292 uncertain significance Cardiovascular phenotype 2023-11-23 criteria provided, single submitter clinical testing The p.R11G variant (also known as c.31C>G), located in coding exon 1 of the CRYAB gene, results from a C to G substitution at nucleotide position 31. The arginine at codon 11 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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