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NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 12, 2021)
Last evaluated:
May 12, 2021
Accession:
VCV001077123.1
Variation ID:
1077123
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

Allele ID
1065766
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131511460 (GRCh38) GRCh38 UCSC
9: 134386847 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134386847C>A
NC_000009.12:g.131511460C>A
NM_001077365.2:c.979C>A MANE Select NP_001070833.1:p.Pro327Thr missense
... more HGVS
Protein change
P175T, P197T, P210T, P232T, P273T, P295T, P297T, P321H, P327T, P349T
Other names
-
Canonical SPDI
NC_000009.12:131511459:C:A
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
Pathogenic 1 criteria provided, single submitter May 12, 2021 RCV001391255.1
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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
(May 12, 2021)
criteria provided, single submitter
Method: clinical testing
Abnormality of brainstem morphology
Ventriculomegaly
fetal CNS anomalies
(Autosomal recessive inheritance)
Allele origin: inherited
Genetics Institute, Tel Aviv Sourasky Medical Center
Accession: SCV001593204.1
Submitted: (May 12, 2021)
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.

Record last updated May 14, 2021