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NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 30, 2017)
Last evaluated:
Oct 25, 2013
Accession:
VCV000003246.3
Variation ID:
3246
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)

Allele ID
18285
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131521351 (GRCh38) GRCh38 UCSC
9: 134396738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9Y6A1:p.Gln590His
NM_007171.3:c.1770G>C NP_009102.3:p.Gln590His missense
NC_000009.11:g.134396738G>C
... more HGVS
Protein change
Q590H, Q514H, Q416H, Q538H, Q451H, Q473H, Q536H, Q568H, Q438H, Q495H, Q564H
Other names
-
Canonical SPDI
NC_000009.12:131521350:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA116112
UniProtKB: Q9Y6A1#VAR_065035
OMIM: 607423.0009
dbSNP: rs119462986
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 25, 2013 RCV000175324.1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Pathogenic 1 no assertion criteria provided May 1, 2006 RCV000003402.5
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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
(Oct 25, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226795.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(May 01, 2006)
no assertion criteria provided
Method: literature only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Allele origin: germline
OMIM
Accession: SCV000023560.4
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
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs119462986...

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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 Oct 16, 2021