Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000151408 | SCV000199419 | uncertain significance | not specified | 2015-05-05 | criteria provided, single submitter | clinical testing | The p.Ala2456Gly variant in MYO15A has been previously identified by our laborat ory in the heterozygous state in two individuals with hearing loss (LMM unpublis hed data). This variant has been identified in 0.1% (23/24442) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs199953758); however, its frequency is not high enough to rule out a p athogenic role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Ala2456Gly variant is uncertain. |
| Illumina Laboratory Services, |
RCV000477852 | SCV000401175 | 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. |
| Labcorp Genetics |
RCV000958415 | SCV001105256 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003965127 | SCV004792102 | benign | MYO15A-related disorder | 2020-07-13 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Division of Human Genetics, |
RCV000477852 | SCV000536818 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 2015-07-25 | no assertion criteria provided | research |