ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2911G>A (p.Val971Ile)

gnomAD frequency: 0.00001  dbSNP: rs548199973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002018998 SCV002259187 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146440 SCV003833203 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042365 SCV005017685 uncertain significance Cardiovascular phenotype 2023-11-30 criteria provided, single submitter clinical testing The p.V971I variant (also known as c.2911G>A), located in coding exon 19 of the FLNC gene, results from a G to A substitution at nucleotide position 2911. The valine at codon 971 is replaced by isoleucine, an amino acid with highly similar properties. This alteration has been reported in a pediatric cardiomyopathy cohort (Ware SM et al. Am J Hum Genet, 2022 Feb;109:282-298). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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