ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.695_696del (p.Tyr232fs)

dbSNP: rs782700993
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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 RCV001071275 SCV001236570 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr232Serfs*16) in the VPS45 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VPS45 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 864158). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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