Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000032622 | SCV000784433 | likely pathogenic | Usher syndrome type 1C | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000662094 | SCV000784434 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000662095 | SCV000784435 | likely pathogenic | Usher syndrome type 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000675046 | SCV000800479 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001377937 | SCV001575393 | pathogenic | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 103 of the USH1C protein (p.Arg103His). This variant is present in population databases (rs397514500, gnomAD 0.008%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 16679490, 21487335, 21569298). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39427). 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. Experimental studies have shown that this missense change affects USH1C function (PMID: 20142502). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000662094 | SCV004207636 | pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-09-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000032622 | SCV000056385 | pathogenic | Usher syndrome type 1C | 2011-09-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000032622 | SCV002080246 | likely pathogenic | Usher syndrome type 1C | 2020-07-14 | no assertion criteria provided | clinical testing |