NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) AND Severe X-linked myotubular myopathy

Clinical significance:Likely pathogenic (Last evaluated: Dec 28, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)]

NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)

MTM1:myotubularin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)
  • NC_000023.11:g.150619083A>T
  • NG_008199.1:g.55510A>T
  • NM_000252.3:c.388A>TMANE SELECT
  • NM_001376906.1:c.388A>T
  • NM_001376907.1:c.277A>T
  • NM_001376908.1:c.388A>T
  • NP_000243.1:p.Arg130Ter
  • NP_001363835.1:p.Arg130Ter
  • NP_001363836.1:p.Arg93Ter
  • NP_001363837.1:p.Arg130Ter
  • LRG_839:g.55510A>T
  • NC_000023.10:g.149787556A>T
Protein change:
Molecular consequence:
  • NM_000252.3:c.388A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376906.1:c.388A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376907.1:c.277A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001376908.1:c.388A>T - nonsense - [Sequence Ontology: SO:0001587]


Severe X-linked myotubular myopathy (CNMX)
X-linked centronuclear myopathy; MYOTUBULAR MYOPATHY 1; Myotubular myopathy, X-linked
MONDO: MONDO:0010683; MedGen: C0410203; Orphanet: 596; OMIM: 310400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001442243Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Dec 28, 2019)
unknownclinical testing

Citation Link


NM_000252.2(MTM1):c.388A>T(R130*) is expected to be pathogenic in the context of X-linked myotubular myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MTM1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Women's Health, Inc., SCV001442243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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