ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) (rs587777145)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000087074 SCV000247124 pathogenic Joubert syndrome 21 2014-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001008753 SCV001168535 pathogenic not provided 2019-07-11 criteria provided, single submitter clinical testing The c.2244_2247delAAGA variant in the CSPP1 gene has been reported previously in association with Joubert syndrome 21 (Shaheen et al., 2014; Ben-Omran et al., 2015). The c.2244_2247delAAGA variant causes a frameshift starting with codon Glutamic acid 750, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted pGlu750LysfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2244_2247delAAGA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2244_2247delAAGA as a pathogenic variant.
OMIM RCV000087074 SCV000119888 pathogenic Joubert syndrome 21 2014-01-02 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162164 SCV000196450 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research

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