ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) (rs1596358564)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000855447 SCV000902241 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 criteria provided, single submitter clinical testing Analysis of the data showed a novel homozygous sequence variant in VPS33B gene. It is predicted as pathogenic by MutationTaster. This variant is classified as likely pathogenic which shows strong evidence of pathogenicity according to ACMG guidelines (Richards et al., 2015). This variant is not found in ExAC and 1000 Genome databases. Sanger sequencing confirmed the variation in proband and parents were heterozygous for the same variation.

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