ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.555+1G>A (rs1590003601)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001009622 SCV001161668 pathogenic Choreoacanthocytosis 2020-01-17 criteria provided, single submitter clinical testing A Homozygous 5' splice site variation in intron 7 of the VPS13A gene that affects the invariant GT donor splice site of exon 7 was detected. The observed variant c.555+1G>A has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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