ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) (rs553406974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634785 SCV000756128 uncertain significance Alstrom syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 1156 of the ALMS1 protein (p.His1156Pro). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is present in population databases (rs553406974, ExAC 0.03%). This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 529374). 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: "Tolerated"; PolyPhen-2: "Deleterious"; Align-GVGD: "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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172516 SCV001335569 likely benign Monogenic diabetes 2018-01-05 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating cause disease)=likely benign
Natera, Inc. RCV000634785 SCV001458921 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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