NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly) AND Slowed nerve conduction velocity, autosomal dominant

Clinical significance:Uncertain significance (Last evaluated: May 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001330526.1

Allele description [Variation Report for NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)]

NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)

Gene:
ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)
HGVS:
  • NC_000008.11:g.1894475A>G
  • NG_008480.1:g.75493A>G
  • NM_001308152.2:c.1229A>G
  • NM_001308153.2:c.1418A>G
  • NM_014629.4:c.1343A>GMANE SELECT
  • NP_001295081.1:p.Glu410Gly
  • NP_001295082.1:p.Glu473Gly
  • NP_055444.2:p.Glu448Gly
  • LRG_234t1:c.1343A>G
  • LRG_234:g.75493A>G
  • NC_000008.10:g.1842641A>G
  • NM_014629.2:c.1343A>G
Protein change:
E410G
Molecular consequence:
  • NM_001308152.2:c.1229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308153.2:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014629.4:c.1343A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Slowed nerve conduction velocity, autosomal dominant (SNCV)
Identifiers:
MONDO: MONDO:0011998; MedGen: C1842357; Orphanet: 140481; OMIM: 608236

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001522233Baylor Geneticscriteria provided, single submitter
Uncertain significance
(May 30, 2019)
paternalclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.

Beutler AS, Kulkarni AA, Kanwar R, Klein CJ, Therneau TM, Qin R, Banck MS, Boora GK, Ruddy KJ, Wu Y, Smalley RL, Cunningham JM, Le-Lindqwister NA, Beyerlein P, Schroth GP, Windebank AJ, Züchner S, Loprinzi CL.

Ann Neurol. 2014 Nov;76(5):727-37. doi: 10.1002/ana.24265. Epub 2014 Sep 17.

PubMed [citation]
PMID:
25164601
PMCID:
PMC4388308

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB.

Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16. Erratum in: Biomed Res Int. 2015;2015:314651.

PubMed [citation]
PMID:
25025039
PMCID:
PMC4082881
See all PubMed Citations (4)

Details of each submission

From Baylor Genetics, SCV001522233.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Although defects in ARHGEF10 have not been fully established to be linked with diseases, reports have associated variants in this gene with chemotherapy induced peripheral neuropathy [PMID: 25164601] and Charcot-Marie-Tooth disease [PMID: 25025039,29653320]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 28, 2021

Support Center