Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669659 | SCV000794435 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-09-26 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004554 | SCV001163633 | likely pathogenic | Usher syndrome type 1 | criteria provided, single submitter | clinical testing | ||
| Invitae | RCV002531234 | SCV003439679 | likely pathogenic | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 554093). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This missense change has been observed in individual(s) with Usher syndrome (PMID: 24498627, 25356976, 33095980). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 104 of the USH1C protein (p.Gly104Asp). |