ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.65del (p.Pro22fs)

dbSNP: rs886042861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000362183 SCV000337006 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518926 SCV003511027 pathogenic Spastic paraplegia 2023-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro22Leufs*7) in the VAMP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VAMP1 are known to be pathogenic (PMID: 28253535). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VAMP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284396). For these reasons, this variant has been classified as Pathogenic.

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