ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) (rs118204051)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000000779 SCV000256330 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730543 SCV000858288 likely pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000000779 SCV001164435 uncertain significance Joubert syndrome 9 2018-12-03 criteria provided, single submitter research The homozygous p.Pro1122Ser variant in CC2D2A was identified by our study in one individual with Joubert syndrome. The p.Pro1122Ser variant in CC2D2A has been reported in at least 5 Saudi Arabian individuals with Joubert syndrome (PMID: 26092869, 18950740), and has been identified in 0.01951% (1/5126) of other chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although there is some suspicion of pathogenicity, the clinical significance of the p.Pro1122Ser variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM1_Supporting (Richards 2015).
Baylor Genetics RCV001329602 SCV001521087 likely pathogenic Joubert syndrome with hepatic defect 2019-11-14 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing by following sources [PMID: 29620724, 18950740, ClinVar ID: 743]
OMIM RCV000000779 SCV000020929 pathogenic Joubert syndrome 9 2008-11-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000000779 SCV001132927 pathogenic Joubert syndrome 9 2019-08-25 no assertion criteria provided clinical testing

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