Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001460495 | SCV001664369 | likely benign | not provided | 2024-03-07 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001460495 | SCV001764367 | uncertain significance | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23967202, 30245029) |
| ARUP Laboratories, |
RCV003120612 | SCV003799255 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 30 | 2022-02-28 | criteria provided, single submitter | clinical testing | The MYO3A c.426T>G; p.His142Gln variant (rs189595832) is reported in the literature in multiple individuals affected with late onset hearing loss (Miyagawa 2013). This variant is reported in ClinVar (Variation ID: 1127897). This variant is found in the East Asian population with an allele frequency of 0.4% (74/19930 alleles) in the Genome Aggregation Database, which greater than expected for MYO3A related deafness. The histidine at codon 142 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.872). However, given the lack of clinical and functional data, the significance of the p.His142Gln variant is uncertain at this time. References: Miyagawa M et al. Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One. 2013 Aug 13;8(8):e71381. PMID: 23967202 |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003399243 | SCV004122019 | uncertain significance | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing | Variant summary: MYO3A c.426T>G (p.His142Gln) results in a non-conservative amino acid change located in the protein kinase domain (IPR000719) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00029 in 251056 control chromosomes, predominantly at a frequency of 0.0039 within the East Asian subpopulation in the gnomAD database. c.426T>G has been reported in the literature in individuals of Japanese ancestry affected with late-onset Autosomal Recessive Nonsyndromic Hearing Loss (Miyagawa_2013). This report does not provide unequivocal conclusions about association of the variant with Autosomal Recessive Nonsyndromic Hearing Loss 30. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30245029, 23967202). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Two submitters classified the variant as uncertain significance and one classified it as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Mayo Clinic Laboratories, |
RCV001460495 | SCV004225220 | uncertain significance | not provided | 2022-12-21 | criteria provided, single submitter | clinical testing | BS1, PP3 |