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NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) AND MPV17-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004733041.1

Allele description [Variation Report for NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)]

NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)

Gene:
MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
HGVS:
  • NC_000002.12:g.27313058C>T
  • NG_008075.1:g.14507G>A
  • NG_033055.1:g.206G>A
  • NM_002437.5:c.122G>AMANE SELECT
  • NP_002428.1:p.Arg41Gln
  • NC_000002.11:g.27535925C>T
  • NM_002437.4:c.122G>A
Protein change:
R41Q; ARG41GLN
Links:
OMIM: 137960.0009; dbSNP: rs140992482
NCBI 1000 Genomes Browser:
rs140992482
Molecular consequence:
  • NM_002437.5:c.122G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MPV17-related disorder
Synonyms:
MPV17-Related Disorders; MPV17-related condition
Identifiers:
MedGen: CN239328

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360803PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 16, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MPV17 c.122G>A variant is predicted to result in the amino acid substitution p.Arg41Gln. This variant has been reported in the homozygous and compound heterozygous states in individuals with axonal sensorimotor polyneuropathy or Charcot-Marie-Tooth disease (see, for example, Choi et al. 2015. PubMed ID: 26437932; Baumann et al. 2019. PubMed ID: 30298599; Table S3, French et al. 2022. PubMed ID: 35586607). In vitro experimental studies suggest this variant impacts protein function (Choi et al. 2015. PubMed ID: 26437932; Ababneh et al. 2021. PubMed ID: 34624274). This variant is reported in 0.0046% of alleles in individuals of European (non-Finnish) descent in gnomAD and has been consistently classified as pathogenic in ClinVar. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024