Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038882 | SCV000062560 | likely benign | not specified | 2012-12-28 | criteria provided, single submitter | clinical testing | Ala64Asp in exon 1 of DFNB31: This variant is not expected to have clinical sign ificance because it has been identified in 0.2% (15/8598) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs146655362). |
EGL Genetic Diagnostics, |
RCV000723700 | SCV000113670 | uncertain significance | not provided | 2013-08-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000291435 | SCV000476806 | uncertain significance | Usher syndrome, type 2D | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Clinical Services Laboratory, |
RCV000346369 | SCV000476807 | uncertain significance | Deafness, autosomal recessive 31 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000723700 | SCV001208506 | uncertain significance | not provided | 2019-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with aspartic acid at codon 64 of the WHRN protein (p.Ala64Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs146655362, ExAC 0.1%). This variant has not been reported in the literature in individuals with WHRN-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Division of Human Genetics, |
RCV000477861 | SCV000536781 | uncertain significance | Deafness, autosomal recessive 31; Usher syndrome, type 2D | 2015-10-13 | no assertion criteria provided | research |