ClinVar Miner

Submissions for variant NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596699 SCV005088864 likely pathogenic Trichothiodystrophy 4, nonphotosensitive 2020-11-26 criteria provided, single submitter clinical testing This variant is predicted to cause a premature termination of the protein and the truncated protein will likely to lack the c-terminal part of the protein; this will likely result in loss-of-function. Due to the introduction of a premature stop codon, this aberrant transcript will likely be targeted by the nonsense-mediated mRNA decay (NMD) mechanism [PMID: 15040442]. The variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, several other truncating variants lying downstream of the identified variant, have been previously reported as ‘pathogenic’ in the ClinVar database context of trichothiodystrophy, nonphotosensitive 1.

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