ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His)

gnomAD frequency: 0.00001  dbSNP: rs180883554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251112 SCV002521529 uncertain significance 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: 0.002%). In silico tool predictions suggest no damaging effect of the variant on gene or gene product (REVEL: 0.33; 3Cnet: 0.06). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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