ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter)

dbSNP: rs202180923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251179 SCV002521665 likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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