ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1255727604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208681 SCV001380084 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-09 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466632 SCV002761710 uncertain significance Hypertrophic cardiomyopathy 26 2021-08-31 criteria provided, single submitter clinical testing The FLNC c.5191C>T variant is classified as VUS (PM2) The FLNC c.5191C>T variant is a single nucleotide change in exon 30/48 of the FLNC gene, which is predicted to change the amino acid histidine at position 1731 in the protein to tyrosine. The variant is rare in population databases (gnomAD allele frequency = 0.000013%; 2 het and 0 hom in 152254 sequenced alleles; highest frequency = 0.000029%, Non-Finnish European population) (PM2). The variant has been reported in dbSNP (rs1255727604). The variant has been reported as Uncertain significance by other diagnostic laboratories (ClinVar Variation ID: 933671).
Ambry Genetics RCV003163582 SCV003913407 uncertain significance Cardiovascular phenotype 2022-12-18 criteria provided, single submitter clinical testing The p.H1731Y variant (also known as c.5191C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 5191. The histidine at codon 1731 is replaced by tyrosine, 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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