ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)

gnomAD frequency: 0.00001  dbSNP: rs1348750495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819229 SCV002067150 uncertain significance not specified 2018-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503314 SCV002790719 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002503314 SCV003504594 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 67 of the VPS45 protein (p.Lys67Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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.
Ambry Genetics RCV002542018 SCV003675026 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.200A>G (p.K67R) alteration is located in exon 2 (coding exon 2) of the VPS45 gene. This alteration results from a A to G substitution at nucleotide position 200, causing the lysine (K) at amino acid position 67 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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