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NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Jul 1, 2019
Accession:
VCV000984134.1
Variation ID:
984134
Description:
single nucleotide variant
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NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)

Allele ID
972397
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 150596531 (GRCh38) GRCh38 UCSC
X: 149764995 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.149764995G>T
NC_000023.11:g.150596531G>T
NG_008199.1:g.32949G>T
... more HGVS
Protein change
E33*
Other names
-
Canonical SPDI
NC_000023.11:150596530:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 no assertion criteria provided Jul 1, 2019 RCV001264141.1
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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
409 604

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 01, 2019)
no assertion criteria provided
Method: clinical testing
Severe X-linked myotubular myopathy
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442242.1
Submitted: (Oct 30, 2020)
Comment:
NM_000252.2(MTM1):c.97G>T(E33*) 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 … (more)
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.

Record last updated Oct 08, 2021