ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)

gnomAD frequency: 0.00020  dbSNP: rs775431837
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730500 SCV000858242 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509577 SCV001716372 uncertain significance Alstrom syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000730500 SCV001796045 uncertain significance not provided 2020-11-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001509577 SCV002190179 uncertain significance Alstrom syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 95 of the ALMS1 protein (p.Pro95Ser). This variant is present in population databases (rs775431837, gnomAD 0.1%). 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: 595064). 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 serine 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.
Ambry Genetics RCV002440570 SCV002748474 likely benign Cardiovascular phenotype 2021-12-21 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, Fulgent Genetics RCV001509577 SCV002794012 uncertain significance Alstrom syndrome 2022-02-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.