ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)

dbSNP: rs1374458008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220543 SCV001392539 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-15 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 949143). This missense change has been observed in individual(s) with frontotemporal dementia (FTD) (PMID: 26555887). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 81 of the FLNC protein (p.Arg81Cys).
Revvity Omics, Revvity RCV003490130 SCV004234810 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing

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