Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557119 | SCV000631795 | uncertain significance | Alstrom syndrome | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 2214 of the ALMS1 protein (p.Asp2214Tyr). This variant is present in population databases (rs367656336, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 459879). 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. |
Counsyl | RCV000557119 | SCV000792726 | uncertain significance | Alstrom syndrome | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367800 | SCV002662200 | likely benign | Cardiovascular phenotype | 2023-03-24 | 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. |
Fulgent Genetics, |
RCV000557119 | SCV002784468 | uncertain significance | Alstrom syndrome | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003222021 | SCV003918768 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Natera, |
RCV000557119 | SCV001463057 | uncertain significance | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |