Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674950 | SCV000800366 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2018-06-01 | criteria provided, single submitter | clinical testing | |
King Laboratory, |
RCV000454216 | SCV002059933 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2020-08-01 | criteria provided, single submitter | research | MYO7A c.6196C>T, p.Q2066* is homozygous in 11 Palestinian children from 5 different families with severe to profound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1. |
Labcorp Genetics |
RCV002522744 | SCV003460080 | pathogenic | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2066*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 29490346). ClinVar contains an entry for this variant (Variation ID: 402265). For these reasons, this variant has been classified as Pathogenic. |
Hereditary Research Laboratory, |
RCV000454216 | SCV000538103 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2016-06-04 | no assertion criteria provided | research | congenital, profound |
Sharon lab, |
RCV001003090 | SCV001161151 | pathogenic | Usher syndrome type 1 | 2019-06-23 | no assertion criteria provided | research |