ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1209G>A (p.Ala403=)

gnomAD frequency: 0.00002  dbSNP: rs746938160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349359 SCV001543701 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1045022). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs746938160, gnomAD 0.03%). This sequence change affects codon 403 of the FLNC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FLNC protein. It affects a nucleotide within the consensus splice site. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002357201 SCV002652107 likely benign Cardiovascular phenotype 2022-04-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987845 SCV004804258 benign not specified 2024-01-08 criteria provided, single submitter clinical testing

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