Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172108 | SCV000051051 | uncertain significance | Hypertrophic cardiomyopathy | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000382675 | SCV000338466 | uncertain significance | not provided | 2016-01-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000536183 | SCV000639695 | uncertain significance | Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 70 of the TCAP protein (p.Arg70Trp). This variant is present in population databases (rs775636212, gnomAD 0.01%). This missense change has been observed in individuals with clinical features of hypertrophic cardiomyopathy and/or dilated cardiomyopathy (PMID: 17097056, 32880476; Invitae). ClinVar contains an entry for this variant (Variation ID: 189789). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV000382675 | SCV001151280 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505226 | SCV002817033 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 | 2021-09-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000382675 | SCV003827079 | uncertain significance | not provided | 2020-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162725 | SCV003860754 | uncertain significance | Cardiovascular phenotype | 2023-02-27 | criteria provided, single submitter | clinical testing | The p.R70W variant (also known as c.208C>T), located in coding exon 2 of the TCAP gene, results from a C to T substitution at nucleotide position 208. The arginine at codon 70 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was detected in the homozygous state (along with other homozygous variants) in a patient with complex congenital heart defect, ambiguous genitalia, and mild limb hypotonia (Mazen I et al. Sex Dev, 2016 Apr;10:16-22). This variant has also been detected in the heterozygous state in cohorts with cardiomyopathy or arrhythmia (Theis JL et al. Biochem Biophys Res Commun, 2006 Dec;351:896-902; Blom LJ et al. Europace, 2019 Oct;21:1519-1526; Verdonschot JAJ et al. Circ Genom Precis Med, 2020 Oct;13:476-487; Ware SM et al. Am J Hum Genet, 2022 Feb;109:282-298). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Clinical Genetics Laboratory, |
RCV000382675 | SCV005198758 | uncertain significance | not provided | 2023-04-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000170303 | SCV000222651 | pathogenic | Hypertrophic cardiomyopathy 25 | 2006-12-29 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV000382675 | SCV001977833 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000382675 | SCV001978996 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000382675 | SCV001979727 | uncertain significance | not provided | no assertion criteria provided | clinical testing |