ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) (rs372563916)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634774 SCV000756117 uncertain significance Alstrom syndrome 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 1272 of the ALMS1 protein (p.Pro1272Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs372563916, ExAC 0.01%). This variant has not been reported in the literature in individuals with ALMS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C1). 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. 5
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172517 SCV001335570 likely benign Monogenic diabetes 2017-05-22 criteria provided, single submitter research ACMG criteria: BP4 (6 predictors), BP1 (missense in gene with truncating known) = likely benign
GeneDx RCV001557628 SCV001779420 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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