ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) (rs377354387)

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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 RCV000445475 SCV000536969 likely benign Monogenic diabetes 2016-07-19 criteria provided, single submitter research ACMG Criteria: PP3, BP1, BP4
Invitae RCV000537876 SCV000631779 uncertain significance Alstrom syndrome 2017-08-11 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1389 of the ALMS1 protein (p.Pro1389Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs377354387, ExAC 0.02%). This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 393372). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine 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 and their clinical significance is uncertain. 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.
Counsyl RCV000537876 SCV000791584 uncertain significance Alstrom syndrome 2017-05-12 criteria provided, single submitter clinical testing

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