ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) (rs201971114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540788 SCV000631782 uncertain significance Alstrom syndrome 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 1440 of the ALMS1 protein (p.Tyr1440Ser). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and serine. This variant is present in population databases (rs201971114, ExAC 0.1%). This variant has not been reported in the literature in individuals with a ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 459868). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172520 SCV001335573 likely benign Monogenic diabetes 2018-06-01 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors plus Revel score: 0.01), BP1 (missense in gene with truncating known)= likely benign

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