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NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 18, 2017)
Last evaluated:
Dec 13, 2017
Accession:
VCV000488581.2
Variation ID:
488581
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)

Allele ID
481449
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131522142 (GRCh38) GRCh38 UCSC
9: 134397529 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134397529C>T
NC_000009.12:g.131522142C>T
NG_008896.1:g.24241C>T
... more HGVS
Protein change
L663F, L587F, L641F, L524F, L546F, L611F, L489F, L609F, L511F, L637F, L568F
Other names
-
Canonical SPDI
NC_000009.12:131522141:C:T
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: CA5293879
dbSNP: rs777437871
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 Dec 13, 2017 RCV000578259.2
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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
Pathogenic
(Dec 13, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
(Autosomal recessive inheritance)
Allele origin: maternal
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV000680346.1
Submitted: (Dec 18, 2017)
Evidence details

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.

Text-mined citations for rs777437871...

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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