ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7427A>G (p.His2476Arg)

dbSNP: rs1563005164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000768507 SCV000886812 uncertain significance Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001855906 SCV002265991 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-03-07 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 been observed in individual(s) with hypertrophic cardiomyopathy (HCM) (PMID: 31513939). ClinVar contains an entry for this variant (Variation ID: 619273). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 2476 of the FLNC protein (p.His2476Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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