ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser)

gnomAD frequency: 0.00003  dbSNP: rs372205719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649121 SCV000770946 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325298 SCV002606924 uncertain significance Cardiovascular phenotype 2019-08-30 criteria provided, single submitter clinical testing The p.T1087S variant (also known as c.3260C>G), located in coding exon 21 of the FLNC gene, results from a C to G substitution at nucleotide position 3260. The threonine at codon 1087 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003441996 SCV004170646 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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