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NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 8, 2018
Accession:
VCV000037312.3
Variation ID:
37312
Description:
single nucleotide variant
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NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)

Allele ID
45887
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 131165096 (GRCh38) GRCh38 UCSC
5: 130500789 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.131165096C>G
NC_000005.9:g.130500789C>G
NM_005340.7:c.110G>C NP_005331.1:p.Arg37Pro missense
... more HGVS
Protein change
R37P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00026
The Genome Aggregation Database (gnomAD) 0.00064
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
UniProtKB: P49773#VAR_069212
OMIM: 601314.0001
dbSNP: rs149782619
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Oct 8, 2018 RCV000030852.4
Pathogenic 1 criteria provided, single submitter Oct 5, 2018 RCV000235535.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HINT1 - - GRCh38
GRCh37
42 62

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293545.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R37P pathogenic variant has been previously reported to segregate with autosomal recessive axonal neuropathy with neuromyotonia in many patients who were either homozygous for ... (more)
Pathogenic
(Oct 08, 2018)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive axonal neuropathy with neuromyotonia
Allele origin: germline
Invitae
Accession: SCV000776537.3
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces arginine with proline at codon 37 of the HINT1 protein (p.Arg37Pro). The arginine residue is weakly conserved and there is a ... (more)
Pathogenic
(Oct 01, 2012)
no assertion criteria provided
Method: literature only
NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000053527.2
Submitted: (Oct 12, 2012)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 25, 2018)
no assertion criteria provided
Method: clinical testing
Autosomal recessive axonal neuropathy with neuromyotonia
Allele origin: germline
Institute of Human Genetics,Cologne University
Accession: SCV000787791.1
Submitted: (May 11, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Laššuthová P Orphanet journal of rare diseases 2016 PMID: 27549087
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. Jerath NU Muscle & nerve 2015 PMID: 26182879
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. Laššuthová P Neurogenetics 2015 PMID: 25342199
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Zimoń M Nature genetics 2012 PMID: 22961002

Record last updated Aug 30, 2019