ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1523G>C (p.Gly508Ala) (rs1553403257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531930 SCV000631767 uncertain significance Alstrom syndrome 2017-04-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 508 of the ALMS1 protein (p.Gly508Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALMS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; Align-GVGD: "Class C0". In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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