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NM_000530.8(MPZ):c.*522C>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000875383.1
Variation ID:
875383
Description:
single nucleotide variant
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NM_000530.8(MPZ):c.*522C>A

Allele ID
862597
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 161305354 (GRCh38) GRCh38 UCSC
1: 161275144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.161305354G>T
NC_000001.10:g.161275144G>T
NM_000530.8:c.*522C>A MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:161305353:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099175.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099176.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099177.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001099178.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPZ - - GRCh38
GRCh37
469 495

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital hypomyelinating neuropathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255605.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, demyelinating, type 1b
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255606.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease dominant intermediate d
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255607.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Roussy-Lévy syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255608.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021