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NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Dec 2, 2020)
Last evaluated:
Nov 2, 2020
Accession:
VCV000092677.3
Variation ID:
92677
Description:
single nucleotide variant
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NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)

Allele ID
98584
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 150645692 (GRCh38) GRCh38 UCSC
X: 149814165 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000252.2:c.688T>C NP_000243.1:p.Trp230Arg missense
NC_000023.10:g.149814165T>C
NC_000023.11:g.150645692T>C
... more HGVS
Protein change
W193R
Other names
-
Canonical SPDI
NC_000023.11:150645691:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA220541
dbSNP: rs398123274
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 2, 2020 RCV000146479.3
Uncertain significance 1 criteria provided, single submitter Mar 18, 2013 RCV000078436.4
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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
413 609

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000193768.1
Submitted: (Sep 11, 2014)
Evidence details
Uncertain significance
(Mar 18, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110289.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Nov 02, 2020)
criteria provided, single submitter
Method: clinical testing
Severe X-linked myotubular myopathy
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001448361.1
Submitted: (Dec 02, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MTM1 c.688T>C (p.Trp230Arg) results in a non-conservative amino acid change located in the Myotubularin-like phosphatase domain (IPR010569) of the encoded protein sequence. Five … (more)

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
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. Nishikawa A Molecular genetics & genomic medicine 2019 PMID: 30884204
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. Penon M Molecular genetics & genomic medicine 2018 PMID: 30047259
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Tsai TC Neuromuscular disorders : NMD 2005 PMID: 15725586
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MTM1 - - - -

Text-mined citations for rs398123274...

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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 Nov 20, 2021