Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038987 | SCV000062665 | likely benign | not specified | 2016-06-30 | criteria provided, single submitter | clinical testing | p.Thr2654Ser in exon 42 of MYO15A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, 3 mammals (black flying fox, megabat, and tenrec) have a serine (Ser) at this position despite high nearby amino acid conservation. In addition, computa tional prediction tools do not suggest a high likelihood of impact to the protei n. It has been identified in 4/7854 of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs20035561). |
Illumina Laboratory Services, |
RCV000267439 | SCV000401188 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 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. |
Gene |
RCV001799615 | SCV002043973 | uncertain significance | not provided | 2024-05-14 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001799615 | SCV002197365 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001799615 | SCV004142406 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | MYO15A: BP4 |
Ambry Genetics | RCV004018886 | SCV004946609 | uncertain significance | Inborn genetic diseases | 2023-11-21 | criteria provided, single submitter | clinical testing | The c.7961C>G (p.T2654S) alteration is located in exon 42 (coding exon 41) of the MYO15A gene. This alteration results from a C to G substitution at nucleotide position 7961, causing the threonine (T) at amino acid position 2654 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |