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NM_000252.3(MTM1):c.679-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 25, 2019
Accession:
VCV000011056.4
Variation ID:
11056
Description:
single nucleotide variant
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NM_000252.3(MTM1):c.679-1G>A

Allele ID
26095
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 150645682 (GRCh38) GRCh38 UCSC
X: 149814155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_839:g.82109G>A
LRG_839t1:c.679-1G>A
NC_000023.11:g.150645682G>A
... more HGVS
Protein change
-
Other names
IVS8, G-A, -1
Canonical SPDI
NC_000023.11:150645681:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA255667
OMIM: 300415.0004
dbSNP: rs672601324
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter May 25, 2019 RCV000011805.14
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTM1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
414 610

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 25, 2019)
criteria provided, single submitter
Method: clinical testing
Severe X-linked myotubular myopathy
Allele origin: germline
Invitae
Accession: SCV000949769.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 8 of the MTM1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Jan 01, 1998)
no assertion criteria provided
Method: literature only
MYOTUBULAR MYOPATHY, X-LINKED
Allele origin: germline
OMIM
Accession: SCV000032038.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Tanner SM Neuromuscular disorders : NMD 1999 PMID: 10063835
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Tanner SM Human mutation 1998 PMID: 9450905
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Laporte J Human molecular genetics 1997 PMID: 9305655

Text-mined citations for rs672601324...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021