ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.62del (p.Pro21fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825548 SCV000966865 likely pathogenic Joubert syndrome 2016-12-23 criteria provided, single submitter clinical testing The p.Pro21HisfsX (NM_001044385.2 c.62delC) variant in TMEM237 has not been repo rted in the literature and was absent from large population studies. This varian t is predicted to cause a frameshift, which alters the protein?s amino acid sequ ence beginning at position 21 and leads to a premature termination codon 125 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function of the TMEM237 gene has been associa ted with Joubert syndrome-related disorders. In summary, although additional stu dies are required to fully establish a null effect on the protein, the p.Pro21Hi sfsX variant in TMEM237 is likely pathogenic for Joubert syndrome-related disord ers in an autosomal recessive manner based upon its predicted functional impact.

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