Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669696 | SCV000794473 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000823085 | SCV000963927 | pathogenic | not provided | 2023-08-06 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 4 of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of autosomal recessive Usher syndrome (PMID: 29490346, 31456290; Invitae). ClinVar contains an entry for this variant (Variation ID: 554125). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000823085 | SCV001245964 | pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485549 | SCV002797151 | pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Laboratory of Prof. |
RCV004698347 | SCV005199923 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2024-08-20 | criteria provided, single submitter | research | A known pathogenic variants according to Deafness Variation Database and ClinVar based on PMID: 29490346. This c.285+2T>G variant was detected in an hearing impaired individual with a sloping audiogram, normal-to-severe HL, in compound heterozygosity with another known pathogenic variant, p.(Ala826Thr). |
Sharon lab, |
RCV001003079 | SCV001161138 | pathogenic | Usher syndrome type 1 | 2019-06-23 | no assertion criteria provided | research |