ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)

gnomAD frequency: 0.00014  dbSNP: rs200169573
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649184 SCV000771009 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762481 SCV000892804 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196412 SCV001367020 uncertain significance Hypertrophic cardiomyopathy 26 2019-01-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BS1.
GeneDx RCV000762481 SCV001830605 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar by another clinical laboratory as a variant of uncertain significance (ClinVar Variant ID 539449; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002325300 SCV002610967 uncertain significance Cardiovascular phenotype 2022-03-15 criteria provided, single submitter clinical testing The p.A1081V variant (also known as c.3242C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3242. The alanine at codon 1081 is replaced by valine, 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.
Revvity Omics, Revvity RCV000762481 SCV003831429 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing

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