ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)

gnomAD frequency: 0.00004  dbSNP: rs1256600488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797026 SCV000936565 uncertain significance Dilated cardiomyopathy 1II 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 92 of the CRYAB protein (p.Lys92Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 643345). 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 RCV002223943 SCV002502063 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477816 SCV002779747 uncertain significance Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-11-04 criteria provided, single submitter clinical testing

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