ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.80-2A>G (rs1445957469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785905 SCV000924481 likely pathogenic Joubert syndrome 14 2018-06-15 criteria provided, single submitter research The homozygous c.80-2A>G variant was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. The c.80-2A>G variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. 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 clinical significance, this variant is likely pathogenic.

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