Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV004818732 | SCV005072269 | likely pathogenic | Retinal dystrophy | 2018-01-01 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004587651 | SCV005077618 | uncertain significance | not specified | 2024-04-17 | criteria provided, single submitter | clinical testing | Variant summary: MYO7A c.1955G>A (p.Cys652Tyr) results in a non-conservative amino acid change located in the Myosin head, motor domain (IPR001609) of 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 227028 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1955G>A has been reported in the literature as a biallelic compound heterozygous genotype in at-least one sporadic deaf proband (He_2018) and as a presumed compound heterozygous genotype without familial segregation studies performed in one individual from a Usher Syndrome referral cohort (example, He_2018, Mansard_2021). These data do not allow any conclusion about variant significance. 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: 29178603, 30358468, 35453549, 34948090). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV005003772 | SCV005632220 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2024-04-20 | criteria provided, single submitter | clinical testing | |
| Institute of Medical Genetics and Applied Genomics, |
RCV005101965 | SCV005848200 | likely pathogenic | Usher syndrome type 1 | 2025-02-19 | criteria provided, single submitter | clinical testing |