Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000385209 | SCV000401136 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 2018-01-13 | 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. |
Laboratory for Molecular Medicine, |
RCV000609727 | SCV000711129 | uncertain significance | not specified | 2016-08-04 | criteria provided, single submitter | clinical testing | The c.4142+6T>C variant in MYO15A has not been previously reported in individual s with hearing loss, but has been identified in 20/66696 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s368090576). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. The c.4142+6T>C vari ant is located in the 5' splice region. Computational tools do not suggest an im pact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.4142+6T>C variant is uncertain. |
Gene |
RCV001552335 | SCV001773004 | uncertain significance | not provided | 2024-03-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign in association with hearing loss to our knowledge; This variant is associated with the following publications: (PMID: 35133174) |
Prevention |
RCV003950097 | SCV004758960 | likely benign | MYO15A-related disorder | 2020-05-14 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |