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NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 26, 2009
Accession:
VCV000003244.2
Variation ID:
3244
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

Allele ID
18283
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131506184 (GRCh38) GRCh38 UCSC
9: 134381571 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134381571G>A
NC_000009.12:g.131506184G>A
NM_001077365.2:c.193G>A MANE Select NP_001070833.1:p.Gly65Arg missense
... more HGVS
Protein change
G65R, G11R
Other names
-
Canonical SPDI
NC_000009.12:131506183:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA116108
UniProtKB: Q9Y6A1#VAR_065027
OMIM: 607423.0006
OMIM: 607423.0010
dbSNP: rs119462983
VarSome
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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 26, 2009 RCV000003400.6
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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 26, 2009)
no assertion criteria provided
Method: literature only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Allele origin: germline
OMIM
Accession: SCV000023558.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

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
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Mercuri E Neurology 2009 PMID: 19299310
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk J Human mutation 2006 PMID: 16575835
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Villanova M Neuromuscular disorders : NMD 2000 PMID: 11053679

Text-mined citations for rs119462983...

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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 Feb 03, 2021