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NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 20, 2020
Accession:
VCV000373970.11
Variation ID:
373970
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)

Allele ID
360906
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131521440 (GRCh38) GRCh38 UCSC
9: 134396827 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134396827G>A
NC_000009.12:g.131521440G>A
NG_008896.1:g.23539G>A
... more HGVS
Protein change
R620Q, R566Q, R568Q, R446Q, R544Q, R481Q, R503Q, R598Q, R594Q, R468Q, R525Q
Other names
-
Canonical SPDI
NC_000009.12:131521439:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00021
Exome Aggregation Consortium (ExAC) 0.00027
Links
ClinGen: CA5293824
dbSNP: rs202140413
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jun 18, 2019 RCV000593932.5
Uncertain significance 1 criteria provided, single submitter Apr 22, 2015 RCV000415416.1
Uncertain significance 1 criteria provided, single submitter Jul 20, 2020 RCV000648163.3
Uncertain significance 1 criteria provided, single submitter Oct 29, 2017 RCV001168475.1
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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
Uncertain significance
(Apr 22, 2015)
criteria provided, single submitter
Method: clinical testing
Cerebellar ataxia
Gait disturbance
Hearing impairment
Poor speech
Sensory neuropathy
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000492620.1
Submitted: (Nov 12, 2016)
Evidence details
Uncertain significance
(Jun 05, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000703206.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145181.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Oct 29, 2017)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001331069.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jul 20, 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: SCV000769977.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 620 of the POMT1 protein (p.Arg620Gln). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Dec 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155778.7
Submitted: (Jul 04, 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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Title Author Journal Year Link
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. Liang WC PloS one 2017 PMID: 28182637
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs202140413...

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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 08, 2021