ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)

dbSNP: rs369650940
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489619 SCV000576710 uncertain significance not provided 2021-11-17 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; This variant is associated with the following publications: (PMID: 26582918)
Invitae RCV000526705 SCV000631807 uncertain significance Alstrom syndrome 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2762 of the ALMS1 protein (p.Pro2762Ala). This variant is present in population databases (rs369650940, gnomAD 0.08%). 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: 426304). 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 RCV002431428 SCV002677238 likely benign Cardiovascular phenotype 2021-11-17 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 RCV000526705 SCV002796961 uncertain significance Alstrom syndrome 2022-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323567 SCV004029130 uncertain significance not specified 2023-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000526705 SCV002082901 uncertain significance Alstrom syndrome 2021-10-15 no assertion criteria provided clinical testing

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