Submissions for variant NM_138701.4(MPLKIP):c.372del (p.Arg126fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002642367	SCV002965307	pathogenic	not provided	2022-10-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPLKIP protein in which other variant(s) (p.Met144Val) have been determined to be pathogenic (PMID: 15645389). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of non-photosensitive trichothiodystrophy (PMID: 31130284). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg126Valfs*27) in the MPLKIP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the MPLKIP protein.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989776	SCV004807360	uncertain significance	Trichothiodystrophy 4, nonphotosensitive	2024-03-26	criteria provided, single submitter	clinical testing