Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038022 | SCV000061688 | uncertain significance | not specified | 2012-01-20 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Asn956Tyr varia nt (DSP) has been identifed in 2/1054 reportedly healthy control chromosomes (Ka pplinger 2011, Wei_2011). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. Although this data suggests that the Asn956Tyr variant may be benign, additional information is needed to fully assess its clinical signifi cance. |
Ambry Genetics | RCV000245114 | SCV000319605 | uncertain significance | Cardiovascular phenotype | 2021-01-07 | criteria provided, single submitter | clinical testing | The p.N956Y variant (also known as c.2866A>T), located in coding exon 20 of the DSP gene, results from an A to T substitution at nucleotide position 2866. The asparagine at codon 956 is replaced by tyrosine, an amino acid with dissimilar properties. This variant was reported in one individual with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (Pugh TJ et al. Genet Med. 2014;16(8):601-8). This alteration has also been reported by two other studies, with each also identifying it in one control (Kapplinger JD et al. J Am Coll Cardiol. 2011;57(23):2317-27; Wei X et al. PLoS ONE. 2011;6(12):e29500). This amino acid position is not well conserved in available vertebrate species. 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 variant remains unclear. |
Invitae | RCV000538882 | SCV000641300 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187313 | SCV001354081 | likely benign | Cardiomyopathy | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003441730 | SCV004170386 | uncertain significance | not provided | 2023-10-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35628349, 22216297, 21636032, 24503780) |