ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815025 SCV000955465 uncertain significance Severe congenital neutropenia 5, autosomal recessive 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 392 of the VPS45 protein (p.Ala392Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs782059726, ExAC 0.02%). This variant has not been reported in the literature in individuals with VPS45-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, 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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