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:
current
Accession:
RCV001264142.1

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

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

Gene:
MTM1:myotubularin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)
HGVS:
  • 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:
R130*
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]

Condition(s)

Name:
Severe X-linked myotubular myopathy (CNMX)
Synonyms:
X-linked centronuclear myopathy; MYOTUBULAR MYOPATHY 1; Myotubular myopathy, X-linked
Identifiers:
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)
OriginMethodCitations
SCV001442243Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Dec 28, 2019)
unknownclinical testing

Citation Link

Description

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.

SCV001442243

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
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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