ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.3730G>C (p.Glu1244Gln) (rs372620412)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549164 SCV000631777 uncertain significance Alstrom syndrome 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid  with glutamine at codon 1244 of the ALMS1 protein (p.Glu1244Gln). The glutamic acid  residue is weakly conserved and there is a small physicochemical difference between glutamic acid  and glutamine. This variant is present in population databases (rs372620412, ExAC 0.1%), including at least one homozygous and/or hemizygous individual. 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: 459865). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on ALMS1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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