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NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 11, 2014)
Last evaluated:
Feb 8, 2013
Accession:
VCV000158892.2
Variation ID:
158892
Description:
single nucleotide variant
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NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)

Allele ID
170022
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 150649884 (GRCh38) GRCh38 UCSC
X: 149818357 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.149818357T>C
NC_000023.11:g.150649884T>C
NG_008199.1:g.86311T>C
... more HGVS
Protein change
W346R, W309R
Other names
-
Canonical SPDI
NC_000023.11:150649883:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA271723
dbSNP: rs587783750
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 8, 2013 RCV000146371.2
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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
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Myotubular myopathy, X-linked
(X-linked inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193655.1
Submitted: (Sep 11, 2014)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs587783750...

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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 Dec 04, 2021