ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)

dbSNP: rs782520163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001916474 SCV002187443 uncertain significance Dilated cardiomyopathy 1II 2023-05-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1410499). This variant has not been reported in the literature in individuals affected with CRYAB-related conditions. This variant is present in population databases (rs782520163, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 107 of the CRYAB protein (p.Arg107Cys). 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 RCV002224112 SCV002502039 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503574 SCV002788619 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-07-26 criteria provided, single submitter clinical testing

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