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NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002325494.2

Allele description [Variation Report for NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)]

NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
HGVS:
  • NC_000001.11:g.161306840G>A
  • NG_008055.1:g.8133C>T
  • NM_000530.8:c.316C>TMANE SELECT
  • NM_001315491.2:c.316C>T
  • NP_000521.2:p.Arg106Cys
  • NP_001302420.1:p.Arg106Cys
  • LRG_256t1:c.316C>T
  • LRG_256:g.8133C>T
  • NC_000001.10:g.161276630G>A
  • NM_000530.6:c.316C>T
Protein change:
R106C
Links:
dbSNP: rs1571819084
NCBI 1000 Genomes Browser:
rs1571819084
Molecular consequence:
  • NM_000530.8:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002609598Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

Marttila M, Rautenstrauss B, Huehne K, Laitinen V, Majamaa K, Kärppä M.

J Neurol. 2012 Aug;259(8):1585-9. doi: 10.1007/s00415-011-6382-5. Epub 2012 Jan 6.

PubMed [citation]
PMID:
22222859

Details of each submission

From Ambry Genetics, SCV002609598.2

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

Description

The p.R106C variant (also known as c.316C>T), located in coding exon 3 of the MPZ gene, results from a C to T substitution at nucleotide position 316. The arginine at codon 106 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was found in multiple individuals with late onset axonal motor and sensory polyneuropathy in the same family, as well as in one unrelated individual (Marttila M et al. J Neurol, 2012 Aug;259:1585-9). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024