NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) AND Inborn genetic diseases

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Jun 19, 2024
Review status:: no classifications from unflagged records

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:: RCV002436458.3

Allele description [Variation Report for NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)]

NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)

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.278G>A (p.Gly93Glu)

HGVS:

NC_000001.11:g.161306878C>T
NG_008055.1:g.8095G>A
NM_000530.8:c.278G>AMANE SELECT
NM_001315491.2:c.278G>A
NP_000521.2:p.Gly93Glu
NP_001302420.1:p.Gly93Glu
LRG_256t1:c.278G>A
LRG_256:g.8095G>A
NC_000001.10:g.161276668C>T
NM_000530.6:c.278G>A

Protein change:

G93E

Links:

dbSNP: rs1060503418

NCBI 1000 Genomes Browser:

rs1060503418

Molecular consequence:

NM_000530.8:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001315491.2:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.

Hum Mutat. 2002 Nov;20(5):392-8.

PubMed [citation]

PMID:: 12402337

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan..

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PubMed [citation]

PMID:: 12477701

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002746114.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.G93E variant (also known as c.278G>A), located in coding exon 3 of the MPZ gene, results from a G to A substitution at nucleotide position 278. The glycine at codon 93 is replaced by glutamic acid, an amino acid with similar properties. This variant has been identified in multiple individuals with Charcot-Marie-Tooth disease; however, clinical details are limited (Hattori N et al. Brain, 2003 Jan;126:134-51; Numakura C et al. Hum. Mutat., 2002 Nov;20:392-8; Ikegami T et al. Am. J. Med. Genet., 1997 Aug;71:246-8). This amino acid position is 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002746114	Ambry Genetics	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 10, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12402337, 12477701, 9217235 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002746114

Ambry Genetics

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 10, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Sep 29, 2024

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