ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.269A>G (p.Lys90Arg)

dbSNP: rs781906938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986309 SCV002279908 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 90 of the VPS45 protein (p.Lys90Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs781906938, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with VPS45-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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