Total submissions: 2
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 |