ClinVar Miner

Submissions for variant NM_007259.5(VPS45):c.93G>A (p.Thr31=)

gnomAD frequency: 0.00001  dbSNP: rs1387315578
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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 RCV001976474 SCV002264282 uncertain significance Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change affects codon 31 of the VPS45 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VPS45 protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). 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: 1475739). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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