ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)

gnomAD frequency: 0.00002  dbSNP: rs574118437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545694 SCV000650972 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1021 of the FLNC protein (p.Ala1021Val). This variant is present in population databases (rs574118437, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 472028). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001561486 SCV001784099 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002448765 SCV002753624 uncertain significance Cardiovascular phenotype 2020-11-23 criteria provided, single submitter clinical testing The p.A1021V variant (also known as c.3062C>T), located in coding exon 20 of the FLNC gene, results from a C to T substitution at nucleotide position 3062. The alanine at codon 1021 is replaced by valine, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526703 SCV005039230 uncertain significance not specified 2024-03-30 criteria provided, single submitter clinical testing

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