ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys)

dbSNP: rs1330454582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800866 SCV000940608 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-02-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 646555). 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 tolerated. 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. This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1754 of the FLNC protein (p.Tyr1754Cys). This variant is present in population databases (no rsID available, gnomAD no frequency).
GeneDx RCV001785726 SCV002028235 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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