Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699134 | SCV000827831 | likely benign | Usher syndrome type 3B | 2024-01-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000572 | SCV001157536 | uncertain significance | not specified | 2019-06-17 | criteria provided, single submitter | clinical testing | The HARS c.679T>G; p.Ser227Ala variant has been reported once in a CMT patient who carried a second variant of the same gene (Lupo 2016). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.09 percent in the Latino population (identified on 31 out of 35,428 chromosomes) and has been reported to the ClinVar database (ClinVar ID: 576600). The serine at position 227 is weakly conserved and computational analyses of the effects of the p.Ser227Ala variant on protein structure and function is conflicting (SIFT: damaging, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Ser227Ala variant with certainty. |
Gene |
RCV001756220 | SCV002005056 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26752306, 29235198) |
Ambry Genetics | RCV002462039 | SCV002755232 | likely benign | Inborn genetic diseases | 2020-10-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |