ClinVar Miner

Submissions for variant NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)

dbSNP: rs1056125920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001731256 SCV002500953 likely pathogenic Joubert syndrome 40 2022-04-20 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Joubert syndrome 40, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to strong).
Labcorp Genetics (formerly Invitae), Labcorp RCV002539803 SCV003008600 pathogenic not provided 2022-07-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1300253). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 34539760). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Glu285*) in the IFT74 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT74 are known to be pathogenic (PMID: 33531668).
OMIM RCV001731256 SCV001981700 pathogenic Joubert syndrome 40 2021-10-21 no assertion criteria provided literature only

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