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NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000056580.1
Variation ID:
56580
Description:
single nucleotide variant
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NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg)

Allele ID
71219
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 46192379 (GRCh38) GRCh38 UCSC
1: 46658051 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.46658051C>G
NC_000001.11:g.46192379C>G
NM_001243766.1:c.1342G>C NP_001230695.1:p.Gly448Arg missense
... more HGVS
Protein change
G448R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA263945
dbSNP: rs386834014
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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 - RCV000049993.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POMGNT1 - - GRCh38
GRCh37
67 398
TSPAN1 - - GRCh38
GRCh37
1 332

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Muscle eye brain disease
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082402.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Citations for this variant

Title Author Journal Year Link
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. Vuillaumier-Barrot S Neuromuscular disorders : NMD 2011 PMID: 21727005

Record last updated Oct 27, 2019