ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)

dbSNP: rs747623981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230633 SCV001403117 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436896 SCV002751251 uncertain significance Cardiovascular phenotype 2021-04-01 criteria provided, single submitter clinical testing The p.A375T variant (also known as c.1123G>A), located in coding exon 7 of the FLNC gene, results from a G to A substitution at nucleotide position 1123. The alanine at codon 375 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available 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.

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