ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) (rs886041185)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624118 SCV000742418 pathogenic Inborn genetic diseases 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000409967 SCV000485632 likely pathogenic Cohen syndrome 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000359731 SCV000329308 pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing The c.9793dupA pathogenic variant in the VPS13B gene has been reported previously in a patient with a suspected Mendelian disorder who was also heterozygous for a deletion of exon 34 of the VPS13B gene (Aradhya et al., 2012). The c.9793dupA variant causes a frameshift starting with codon Methionine 3265, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Met3265AsnfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.9793dupA variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. We interpret c.9793dupA as a pathogenic variant.

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