Total submissions: 3
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, |
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. |