ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His) (rs878854996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227407 SCV000290070 uncertain significance Alstrom syndrome 2017-01-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 4074 of the ALMS1 protein (p.Gln4074His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 240981). 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"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000227407 SCV000797379 uncertain significance Alstrom syndrome 2018-01-24 criteria provided, single submitter clinical testing

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