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NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 17, 2020
Accession:
VCV000999084.1
Variation ID:
999084
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly)

Allele ID
993211
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131518861 (GRCh38) GRCh38 UCSC
9: 134394248 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.131518861T>G
NC_000009.11:g.134394248T>G
NM_001077365.2:c.1390T>G MANE Select NP_001070833.1:p.Trp464Gly missense
... more HGVS
Protein change
W312G, W334G, W347G, W369G, W410G, W432G, W434G, W460G, W464G, W486G
Other names
-
Canonical SPDI
NC_000009.12:131518860:T:G
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
Uncertain significance 1 criteria provided, single submitter Feb 17, 2020 RCV001295034.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Feb 17, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Walker-Warburg congenital muscular dystrophy
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Allele origin: germline
Invitae
Accession: SCV001483943.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces tryptophan with glycine at codon 486 of the POMT1 protein (p.Trp486Gly). The tryptophan residue is highly conserved and there is a … (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
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. Hu P Journal of cellular and molecular medicine 2017 PMID: 28157257
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. Yang H Journal of human genetics 2016 PMID: 27193224

Record last updated Jun 14, 2021