ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) (rs972221242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785906 SCV000924482 likely pathogenic Joubert syndrome 14 2018-06-15 criteria provided, single submitter research The homozygous p.Gln140Ter variant was identified by our study in one individual with Joubert syndrome. This variant has been identified in <0.01% (1/33566) of Latino 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. Loss of function of the TMEM237 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
Hadassah Hebrew University Medical Center RCV000785906 SCV001142763 likely pathogenic Joubert syndrome 14 2019-06-20 criteria provided, single submitter clinical testing

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