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NM_000530.8(MPZ):c.215G>A (p.Gly72Glu) AND Charcot-Marie-Tooth disease dominant intermediate D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 2023
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:
RCV003484534.2

Allele description [Variation Report for NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)]

NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)

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.215G>A (p.Gly72Glu)
HGVS:
  • NC_000001.11:g.161307277C>T
  • NG_008055.1:g.7696G>A
  • NM_000530.8:c.215G>AMANE SELECT
  • NM_001315491.2:c.215G>A
  • NP_000521.2:p.Gly72Glu
  • NP_000521.2:p.Gly72Glu
  • NP_001302420.1:p.Gly72Glu
  • LRG_256t1:c.215G>A
  • LRG_256:g.7696G>A
  • LRG_256p1:p.Gly72Glu
  • NC_000001.10:g.161277067C>T
  • NM_000530.6:c.215G>A
Protein change:
G72E
Molecular consequence:
  • NM_000530.8:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease dominant intermediate D
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D; Charcot-Marie-Tooth disease dominant intermediate 3; CMT DI3
Identifiers:
MONDO: MONDO:0011909; MedGen: C1843075; OMIM: 607791

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229090Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Uncertain significance
(Oct 4, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004229090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024