ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)

dbSNP: rs1562999443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854932 SCV002230544 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-07-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1539 of the FLNC protein (p.Ala1539Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects FLNC protein function (PMID: 25351925). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 25351925, 28356264, 30418145). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 253123). This variant is not present in population databases (ExAC no frequency).
OMIM RCV000239536 SCV000297921 pathogenic Hypertrophic cardiomyopathy 26 2016-07-21 no assertion criteria provided literature only

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