ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr)

gnomAD frequency: 0.00001  dbSNP: rs772697482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649122 SCV000770947 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343976 SCV004051226 uncertain significance Cardiovascular phenotype 2023-06-30 criteria provided, single submitter clinical testing The p.A479T variant (also known as c.1435G>A), located in coding exon 9 of the FLNC gene, results from a G to A substitution at nucleotide position 1435. The alanine at codon 479 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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