Submissions for variant NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)

dbSNP: rs587783847

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146473	SCV000193761	pathogenic	Severe X-linked myotubular myopathy	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000146473	SCV001201848	pathogenic	Severe X-linked myotubular myopathy	2019-12-27	criteria provided, single submitter	clinical testing	This variant has been observed in individuals affected with myotubular myopathy (PMID: 9305655, 26338224, 12522554). ClinVar contains an entry for this variant (Variation ID: 158994). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg222*) in the MTM1 gene. It is expected to result in an absent or disrupted protein product.
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	RCV000146473	SCV004024490	pathogenic	Severe X-linked myotubular myopathy	2023-07-01	criteria provided, single submitter	research
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000146473	SCV000920407	pathogenic	Severe X-linked myotubular myopathy	2009-11-24	no assertion criteria provided	clinical testing