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POMT1, GLN590HIS

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 23, 2006
Accession:
VCV000003249.2
Variation ID:
3249
Description:
variation
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POMT1, GLN590HIS

Allele ID
18288
Variant type
Variation
Variant length
-
Cytogenetic location
9q34.1
Genomic location
-
HGVS
-
Protein change
-
Other names
Q590H
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 607423.0012
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Pathogenic 1 no assertion criteria provided May 23, 2006 RCV000003405.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POMT1 - - GRCh38
GRCh37
561 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 23, 2006)
no assertion criteria provided
Method: literature only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Allele origin: germline
OMIM
Accession: SCV000023563.4
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
Expanding the clinical spectrum of POMT1 phenotype. D'Amico A Neurology 2006 PMID: 16717220

Record last updated Aug 22, 2020