ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) (rs771595125)

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Total submissions: 2
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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 RCV001172497 SCV001335550 likely benign Monogenic diabetes 2018-01-02 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (6 predictors), BP1 (missense in gene with truncating cause disease)=Likely benign
Invitae RCV001244765 SCV001418009 uncertain significance Alstrom syndrome 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 3776 of the ALMS1 protein (p.Leu3776Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs771595125, ExAC 0.01%). 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: "Deleterious"; 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.

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