Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000640701 | SCV000762298 | uncertain significance | Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy | 2022-02-03 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 533540). This variant has not been reported in the literature in individuals affected with TCAP-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 17 of the TCAP protein (p.Arg17Pro). |
| Fulgent Genetics, |
RCV002492997 | SCV002791231 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 | 2021-08-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003303027 | SCV004000859 | uncertain significance | Cardiovascular phenotype | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.50_51delGCinsCT variant (also known as p.R17P), located in coding exon 1 of the TCAP gene, results from an in-frame deletion of GC and insertion of CT at nucleotide positions 50 to 51. This results in the substitution of the arginine residue for a proline residue at codon 17, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |