ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)

gnomAD frequency: 0.00003  dbSNP: rs781760817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535936 SCV000650980 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001569474 SCV001793559 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30681346)
Ambry Genetics RCV002448766 SCV002611794 uncertain significance Cardiovascular phenotype 2023-12-08 criteria provided, single submitter clinical testing The p.A1081T variant (also known as c.3241G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3241. The alanine at codon 1081 is replaced by threonine, an amino acid with similar properties. This variant has been detected in peripartum cardiomyopathy cohort (Goli R et al. Circulation. 2021 May;143(19):1852-1862). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001569474 SCV003833186 uncertain significance not provided 2020-08-03 criteria provided, single submitter clinical testing

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