Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001171544 | SCV001334330 | uncertain significance | Usher syndrome | 2020-05-20 | reviewed by expert panel | curation | The c.3527G>A (p.Ser1176Asn) variant in MYO7A was present in 0.057% (lower bound of the 95% CI of 33/42036) of African alleles in gnomAD v3 (BS1_Supporting not met). It has been observed in at least 3 individuals with Usher syndrome type 1. However, in one proband the p.Ser1176Asn variant was observed in cis with another pathogenic/likely pathogenic variant in MYO7A (BP2; PMID: 26969326). The remaining probands did not have other pathogenic or likely pathogenic variants in MYO7A identified (PM3 and PP4 not met; PMID: 27344577, 27460420, 31479088). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BP2. |
Eurofins Ntd Llc |
RCV000724054 | SCV000228596 | uncertain significance | not provided | 2014-07-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724054 | SCV000714448 | likely benign | not provided | 2020-08-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26969326, 31479088, 27460420, 27344577, 33297549) |
Counsyl | RCV000665185 | SCV000789259 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-01-20 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988610 | SCV001138389 | uncertain significance | Usher syndrome type 1 | 2023-04-21 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073919 | SCV001239484 | uncertain significance | Retinal dystrophy | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724054 | SCV001418817 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500491 | SCV002791084 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2022-03-18 | criteria provided, single submitter | clinical testing |