ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388731 SCV004100478 likely pathogenic Chorea-acanthocytosis criteria provided, single submitter clinical testing The frameshift deletion p.K1038Nfs*2 in VPS13A (NM_033305.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.K1038Nfs*2 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic

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