Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000230123 | SCV001285843 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 2017-04-28 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003233511 | SCV003932175 | uncertain significance | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing | PM1, PM2, PP3 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000230123 | SCV005380608 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2024-08-12 | criteria provided, single submitter | clinical testing | Variant summary: MYO15A c.5809C>T (p.Arg1937Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248044 control chromosomes (gnomAD). c.5809C>T has been reported in the literature in multiple individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss 3 (Sloan-Heggen_2015, Rehman_2016). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 26445815, 27375115). ClinVar contains an entry for this variant (Variation ID: 242333). Based on the evidence outlined above, the variant was classified as pathogenic. |
Center for Statistical Genetics, |
RCV000230123 | SCV000282041 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2016-06-06 | no assertion criteria provided | research |