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NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 22, 2019
Accession:
VCV000834565.2
Variation ID:
834565
Description:
3bp microsatellite
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NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)

Allele ID
835602
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
9q34.13
Genomic location
9: 131518935-131518937 (GRCh38) GRCh38 UCSC
9: 134394322-134394324 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134394323GAG[1]
NC_000009.12:g.131518936GAG[1]
NM_001077365.2:c.1465GAG[1] MANE Select NP_001070833.1:p.Glu490del
... more HGVS
Protein change
E458del, E486del, E490del, E338del, E373del, E436del, E395del, E460del, E360del, E512del
Other names
-
Canonical SPDI
NC_000009.12:131518934:GGAGGAG:GGAG
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 Mar 22, 2019 RCV001035278.2
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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
(Mar 22, 2019)
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: SCV001198601.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.1534_1536del, results in the deletion of 1 amino acid(s) of the POMT1 protein (p.Glu512del), but otherwise preserves the integrity of the reading frame. … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021