ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)

gnomAD frequency: 0.00001  dbSNP: rs769298304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816348 SCV000956849 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001545325 SCV001764640 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002381835 SCV002670677 uncertain significance Cardiovascular phenotype 2024-01-22 criteria provided, single submitter clinical testing The p.Y2455C variant (also known as c.7364A>G), located in coding exon 44 of the FLNC gene, results from an A to G substitution at nucleotide position 7364. The tyrosine at codon 2455 is replaced by cysteine, an amino acid with highly dissimilar 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.
Revvity Omics, Revvity RCV001545325 SCV003831398 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing

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