Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674162 | SCV000799449 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857200 | SCV002181741 | uncertain significance | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 147 of the USH1C protein (p.His147Arg). This variant is present in population databases (rs777591673, gnomAD 0.006%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 437935). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
NIHR Bioresource Rare Diseases, |
RCV000504748 | SCV000598663 | likely pathogenic | Usher syndrome | 2015-01-01 | no assertion criteria provided | research |