ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)

gnomAD frequency: 0.00001  dbSNP: rs377206490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001916797 SCV002193728 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352586 SCV002651731 uncertain significance Cardiovascular phenotype 2021-05-17 criteria provided, single submitter clinical testing The p.A1922V variant (also known as c.5765C>T), located in coding exon 35 of the FLNC gene, results from a C to T substitution at nucleotide position 5765. The alanine at codon 1922 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150470 SCV003837907 uncertain significance Cardiomyopathy 2022-06-10 criteria provided, single submitter clinical testing

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