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NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 6, 2020)
Last evaluated:
Apr 23, 2019
Accession:
VCV000283451.5
Variation ID:
283451
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)

Allele ID
267688
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131511349 (GRCh38) GRCh38 UCSC
9: 134386736 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.131511349C>T
NC_000009.11:g.134386736C>T
NM_001077365.2:c.868C>T MANE Select NP_001070833.1:p.Arg290Trp missense
... more HGVS
Protein change
R312W, R195W, R173W, R258W, R260W, R138W, R236W, R290W, S284L, R160W
Other names
-
Canonical SPDI
NC_000009.12:131511348:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10604495
dbSNP: rs886042627
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 31, 2017 RCV000332052.6
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Dec 19, 2016 RCV000725271.2
Uncertain significance 1 criteria provided, single submitter Apr 23, 2019 RCV000648159.3
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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
(Dec 28, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000596533.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Oct 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000335534.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Dec 19, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000534415.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R312W variant in the POMT1 gene has not been published as a pathogenic variant, nor as a benign variant, to our knowledge. The R312W … (more)
Uncertain significance
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712538.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg312Trp variant in POMT1 has not been previously reported in individuals with myopathy but has been identified in 5 /277130 chromosomes by the Genome … (more)
Uncertain significance
(Apr 23, 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: SCV000769973.3
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 312 of the POMT1 protein (p.Arg312Trp). The arginine residue is highly conserved and there is a … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs886042627...

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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 Jul 07, 2021