Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002357068 | SCV002650742 | likely benign | Cardiovascular phenotype | 2021-07-13 | 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. |
| Invitae | RCV001278758 | SCV003439513 | uncertain significance | Alstrom syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1923 of the ALMS1 protein (p.Val1923Ala). This variant is present in population databases (rs761428155, gnomAD 0.1%). This missense change has been observed in individual(s) with polycystic ovary syndrome (PMID: 34147365). This variant is also known as p.V1921A. ClinVar contains an entry for this variant (Variation ID: 990690). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Natera, |
RCV001278758 | SCV001465790 | likely benign | Alstrom syndrome | 2020-04-30 | no assertion criteria provided | clinical testing |