ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)

gnomAD frequency: 0.00001  dbSNP: rs1376119645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001324847 SCV001515813 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384432 SCV002671667 uncertain significance Cardiovascular phenotype 2022-02-03 criteria provided, single submitter clinical testing The p.V2480A variant (also known as c.7439T>C), located in coding exon 45 of the FLNC gene, results from a T to C substitution at nucleotide position 7439. The valine at codon 2480 is replaced by alanine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (1/31374) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was <0.01% (1/8702) of African alleles. 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.
PreventionGenetics, part of Exact Sciences RCV003898311 SCV004711678 uncertain significance FLNC-related condition 2024-01-05 criteria provided, single submitter clinical testing The FLNC c.7439T>C variant is predicted to result in the amino acid substitution p.Val2480Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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