ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6186G>C (p.Gln2062His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810558 SCV000950771 uncertain significance Alstrom syndrome 2018-10-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 2062 of the ALMS1 protein (p.Gln2062His). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and histidine This variant is present in population databases (rs200041852, ExAC 0.08%). 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 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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