NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jul 13, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000518262.3

Allele description [Variation Report for NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)]

NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)

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.418T>A (p.Ser140Thr)

HGVS:

NC_000001.11:g.161306738A>T
NG_008055.1:g.8235T>A
NM_000530.8:c.418T>AMANE SELECT
NM_001315491.2:c.418T>A
NP_000521.2:p.Ser140Thr
NP_001302420.1:p.Ser140Thr
LRG_256t1:c.418T>A
LRG_256:g.8235T>A
NC_000001.10:g.161276528A>T
NM_000530.6:c.418T>A

Protein change:

S140T

Links:

dbSNP: rs572010627

Molecular consequence:

NM_000530.8:c.418T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001315491.2:c.418T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614110	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Aug 16, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 14711881, 26310628, 12207932, 26467025
SCV005199167	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614110

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Aug 16, 2016)

germline

clinical testing

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

SCV005199167

Clinical Genetics Laboratory, Skane University Hospital Lund

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 13, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.

Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 7. Review.

PubMed [citation]

PMID:: 14711881

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, et al.

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

PubMed [citation]

PMID:: 26310628
PMCID:: PMC4643641

See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV000614110.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199167.1

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

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

Last Updated: Mar 28, 2026

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