ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) (rs201213079)

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Total submissions: 3
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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 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 3327 of the ALMS1 protein (p.Ala3327Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs201213079, ExAC 0.07%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Not Available; Align-GVGD: Class C0). 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)

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