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NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 3, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV000658159.4
Variation ID:
658159
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)

Allele ID
628230
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6471489 (GRCh38) GRCh38 UCSC
1: 6531549 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6531549A>G
NC_000001.11:g.6471489A>G
NG_007978.1:g.53521T>C
... more HGVS
Protein change
M496T, M427T, M464T
Other names
-
Canonical SPDI
NC_000001.11:6471488:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs754678569
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 Oct 20, 2020 RCV000814924.3
Uncertain significance 1 criteria provided, single submitter Oct 16, 2020 RCV001772110.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEKHG5 - - GRCh38
GRCh37
671 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Distal spinal muscular atrophy, autosomal recessive 4
Charcot-Marie-Tooth disease, recessive intermediate c
Allele origin: germline
Invitae
Accession: SCV000955362.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 427 of the PLEKHG5 protein (p.Met427Thr). The methionine residue is moderately conserved and there is a … (more)
Uncertain significance
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002003521.1
Submitted: (Nov 03, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter … (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.

Text-mined citations for rs754678569...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021