Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178544 | SCV000230644 | pathogenic | not provided | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000667070 | SCV000791463 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000178544 | SCV001589415 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1990*) 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 present in population databases (rs773844428, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483). ClinVar contains an entry for this variant (Variation ID: 197497). |