ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.350delC (rs1555459968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627439 SCV000748438 pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing The c.350delC variant has been reported previously, as c.348delC using alternate nomenclature, in association with ARC syndrome (Gissen et al.; 2004). The deletion causes a frameshift starting with codon Proline 117, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Pro117LeufsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider the variant to be pathogenic.
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV001251001 SCV001426402 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 criteria provided, single submitter research

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