ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)

gnomAD frequency: 0.00026  dbSNP: rs201213079
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172530 SCV001335583 likely benign Monogenic diabetes 2018-01-12 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating cause disease)=likely benign
Invitae RCV001324083 SCV001515022 uncertain significance Alstrom syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 3327 of the ALMS1 protein (p.Ala3327Pro). This variant is present in population databases (rs201213079, 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: 916716). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001546161 SCV001765632 uncertain significance not provided 2021-08-03 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)
Ambry Genetics RCV002379672 SCV002688898 likely benign Cardiovascular phenotype 2021-07-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001324083 SCV003928177 uncertain significance Alstrom syndrome criteria provided, single submitter research Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs201213079 in Alstrom syndrome yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387969 SCV004100116 uncertain significance not specified 2023-09-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001324083 SCV002078960 uncertain significance Alstrom syndrome 2021-07-28 no assertion criteria provided clinical testing

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