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NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000502224.1
Variation ID:
502224
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

Allele ID
493648
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131512044 (GRCh38) GRCh38 UCSC
9: 134387431 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.131512044T>A
NC_000009.11:g.134387431T>A
NM_001077365.2:c.990T>A MANE Select NP_001070833.1:p.Tyr330Ter nonsense
... more HGVS
Protein change
Y352*, Y330*, Y213*, Y178*, Y276*, Y298*, Y235*, Y300*, Y326*, Y200*
Other names
-
Canonical SPDI
NC_000009.12:131512043:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA375308747
dbSNP: rs765230689
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 Jun 6, 2017 RCV000595731.1
Pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000763189.1
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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
Pathogenic
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708878.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893801.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs765230689...

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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 Jun 14, 2021