ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter) (rs762334514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826097 SCV000967602 likely pathogenic Joubert syndrome 2018-12-04 criteria provided, single submitter clinical testing The p.Gln760X variant in C5orf42 (also known as CPLANE1) has not been reported i n individuals with Joubert syndrome but has been identified in 1/52046 of Europe an chromosomes by gnomAD (http://gnomad.broadinstitute.org). This nonsense varia nt leads to a premature termination codon at position 760, which is predicted to lead to a truncated or absent protein. Loss of function of the C5orf42 gene is an established disease mechanism in Joubert syndrome. In summary, although addit ional studies are required to fully establish its clinical significance, this va riant meets criteria to be classified as likely pathogenic for autosomal recessi ve Joubert syndrome. ACMG/AMP Criteria applied: PVS1_Strong, PM2.

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