ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)

gnomAD frequency: 0.00001  dbSNP: rs368347807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819494 SCV000960158 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 199 of the VPS45 protein (p.Tyr199Ser). This variant is present in population databases (rs368347807, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VPS45-related conditions. ClinVar contains an entry for this variant (Variation ID: 661964). 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.
Natera, Inc. RCV000819494 SCV002085784 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2020-07-16 no assertion criteria provided clinical testing

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