ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His)

gnomAD frequency: 0.00009  dbSNP: rs371262238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886220 SCV002156661 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386649 SCV002670433 uncertain significance Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing The p.Y2455H variant (also known as c.7363T>C), located in coding exon 44 of the FLNC gene, results from a T to C substitution at nucleotide position 7363. The tyrosine at codon 2455 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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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