ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)

gnomAD frequency: 0.00010  dbSNP: rs370512642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649116 SCV000770941 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001592807 SCV001815498 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 539388; Landrum et al., 2016)
Ambry Genetics RCV002325297 SCV002610834 uncertain significance Cardiovascular phenotype 2022-06-01 criteria provided, single submitter clinical testing The p.G11S variant (also known as c.31G>A), located in coding exon 1 of the FLNC gene, results from a G to A substitution at nucleotide position 31. The glycine at codon 11 is replaced by serine, an amino acid with similar properties. This amino acid position is not well 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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