ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)

dbSNP: rs372504725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001930204 SCV002133103 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-10-12 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with cysteine at codon 2534 of the FLNC protein (p.Gly2534Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.
Revvity Omics, Revvity RCV003146282 SCV003833152 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing

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