ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) (rs587777139)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000087067 SCV000256397 pathogenic Joubert syndrome 21 2015-02-23 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196441 SCV001367049 pathogenic Myopathy; Mitochondrial encephalopathy; Cerebellar ataxia; Neonatal hypotonia; Rotary nystagmus; Abnormality of mitochondrial metabolism; Fatigable weakness; Congenital bilateral ptosis; Nasal, dysarthic speech; Moderate global developmental delay 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.
Invitae RCV000087067 SCV001415320 pathogenic Joubert syndrome 21 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu750Glyfs*30) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751779946, ExAC 0.02%). This variant has been observed in individual(s) with Joubert syndrome and Meckel syndrome (PMID: 24360807, 24360808, 27894351). ClinVar contains an entry for this variant (Variation ID: 100667). Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000087067 SCV000119881 pathogenic Joubert syndrome 21 2014-01-02 no assertion criteria provided literature only

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