Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001771924 | SCV001992464 | uncertain significance | not provided | 2022-05-18 | criteria provided, single submitter | clinical testing | Reported with a second variant in a family with autosomal recessive hearing loss in published literature (Richard et al., 2019), however, clinical information was not provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30303587, 31589614) |
| Fulgent Genetics, |
RCV002485569 | SCV002783380 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2022-03-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001771924 | SCV003522349 | likely benign | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235344 | SCV003934401 | uncertain significance | not specified | 2023-05-09 | criteria provided, single submitter | clinical testing | Variant summary: MYO7A c.3364C>A (p.Leu1122Ile) results in a conservative amino acid change located in the MyTH4 domain (IPR000857) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.9e-05 in 155582 control chromosomes (gnomAD). c.3364C>A has been reported in the literature in the compound heterozygous state in two siblings affected with hearing loss and the variant was observed to segregate with the phenotype in an autosomal recessive inhertiance pattern in the family (Richard_2019). These data indicate that the variant may be associated with disease. 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: 36147510, 30303587). Four submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as either VUS (n=3), or pathogenic (n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Center for Statistical Genetics, |
RCV000679824 | SCV000804815 | pathogenic | Deafness | 2018-09-10 | no assertion criteria provided | research | |
| University of Washington Center for Mendelian Genomics, |
RCV001291474 | SCV001479978 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |