ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr)

dbSNP: rs777939926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001864159 SCV002120522 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370380 SCV002625064 uncertain significance Cardiovascular phenotype 2022-08-20 criteria provided, single submitter clinical testing The p.A1318T variant (also known as c.3952G>A), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3952. The alanine at codon 1318 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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