ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)

dbSNP: rs1808189981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002031196 SCV002310269 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 392 of the FLNC protein (p.Ala392Asp). This variant is not present in population databases (gnomAD no frequency). 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: 1521284). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC protein function. 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.
Ambry Genetics RCV004044738 SCV003646903 uncertain significance Cardiovascular phenotype 2022-10-12 criteria provided, single submitter clinical testing The c.1175C>A (p.A392D) alteration is located in exon 7 (coding exon 7) of the FLNC gene. This alteration results from a C to A substitution at nucleotide position 1175, causing the alanine (A) at amino acid position 392 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003146495 SCV003833109 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing

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