ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)

gnomAD frequency: 0.00001  dbSNP: rs1457558516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001919252 SCV002187650 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002441043 SCV002750733 uncertain significance Cardiovascular phenotype 2020-06-15 criteria provided, single submitter clinical testing The p.D1000A variant (also known as c.2999A>C), located in coding exon 20 of the FLNC gene, results from an A to C substitution at nucleotide position 2999. The aspartic acid at codon 1000 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other 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 RCV003401895 SCV004119619 uncertain significance FLNC-related disorder 2022-11-09 criteria provided, single submitter clinical testing The FLNC c.2999A>C variant is predicted to result in the amino acid substitution p.Asp1000Ala. 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 (http://gnomad.broadinstitute.org/variant/7-128484127-A-C). 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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