Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DNA and Cytogenetics Diagnostics Unit, |
RCV000625478 | SCV000745529 | likely benign | Xeroderma pigmentosum, group G | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000995081 | SCV001149076 | likely benign | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000625478 | SCV001268024 | uncertain significance | Xeroderma pigmentosum, group G | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV000995081 | SCV001416378 | uncertain significance | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with leucine at codon 597 of the ERCC5 protein (p.Val597Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs4150319, ExAC 0.2%). This variant has not been reported in the literature in individuals with ERCC5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
ITMI | RCV000120868 | SCV000085036 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genome Diagnostics Laboratory, |
RCV000625478 | SCV000745991 | likely benign | Xeroderma pigmentosum, group G | 2016-04-29 | no assertion criteria provided | clinical testing |