ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)

gnomAD frequency: 0.00001  dbSNP: rs758368974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux RCV001201341 SCV001338779 likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2020-04-06 criteria provided, single submitter clinical testing The variant isa nonsense variant which was present with only 2 heterozygous in gnomAD database, found in trans with another likely pathogenic variant, and considered as pathogenic according to the ACMG guidelines.
Invitae RCV001239940 SCV001412847 pathogenic not provided 2019-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg316*) in the VPS13D gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with VPS13D-related conditions. Loss-of-function variants in VPS13D are known to be pathogenic (PMID: 29518281). For these reasons, this variant has been classified as Pathogenic.

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