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NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 18, 2020
Accession:
VCV000166896.3
Variation ID:
166896
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr)

Allele ID
177259
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131515502 (GRCh38) GRCh38 UCSC
9: 134390889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134390889G>A
NC_000009.12:g.131515502G>A
NM_001077365.2:c.1252G>A MANE Select NP_001070833.1:p.Ala418Thr missense
... more HGVS
Protein change
A440T, A266T, A301T, A386T, A388T, A418T, A323T, A364T, A288T, A414T
Other names
-
Canonical SPDI
NC_000009.12:131515501:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00012
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA233762
dbSNP: rs142057517
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 May 3, 2017 RCV000153045.3
Uncertain significance 1 criteria provided, single submitter Mar 18, 2020 RCV001243330.2
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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 18, 2020)
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: SCV001416479.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 440 of the POMT1 protein (p.Ala440Thr). The alanine residue is moderately conserved and there is a … (more)
Uncertain significance
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202499.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs142057517...

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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