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NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 15, 2020
Accession:
VCV000373421.4
Variation ID:
373421
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)

Allele ID
359270
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6532670 (GRCh37) GRCh37 UCSC
1: 6472610 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.6472610G>A
NG_007978.1:g.52400C>T
NM_001042663.3:c.1108C>T NP_001036128.2:p.Arg370Trp missense
... more HGVS
Protein change
R333W, R402W, R370W
Other names
-
Canonical SPDI
NC_000001.11:6472609:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA561676
dbSNP: rs148232621
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 Nov 17, 2016 RCV000413441.1
Uncertain significance 1 criteria provided, single submitter Feb 15, 2020 RCV000552251.6
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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
675 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000492013.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
A variant of uncertain significance has been identified in the PLEKHG5 gene. The R333W variant has not been published as a pathogenic variant, nor has … (more)
Uncertain significance
(Feb 15, 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: SCV000646075.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 333 of the PLEKHG5 protein (p.Arg333Trp). The arginine residue is moderately conserved and there is a … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs148232621...

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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 Oct 30, 2021