ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8923C>T (p.Pro2975Ser) (rs1043429291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461372 SCV000541355 uncertain significance Alstrom syndrome 2017-02-20 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2975 of the ALMS1 protein (p.Pro2975Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ALMS1-related disease. 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: "Benign"; 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.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786095 SCV000924733 uncertain significance not provided 2017-02-20 no assertion criteria provided provider interpretation

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