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NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 22, 2019
Accession:
VCV000429408.4
Variation ID:
429408
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)

Allele ID
421254
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6468530 (GRCh38) GRCh38 UCSC
1: 6528590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.56480C>T
NC_000001.10:g.6528590G>A
NC_000001.11:g.6468530G>A
... more HGVS
Protein change
T769M, T838M, T806M
Other names
-
Canonical SPDI
NC_000001.11:6468529:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA17234404
dbSNP: rs1000775772
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 Apr 13, 2017 RCV000493291.1
Uncertain significance 1 criteria provided, single submitter Dec 22, 2019 RCV001070725.2
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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
(Apr 13, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000581971.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the PLEKHG5 gene. The T796M variant has not been published as a pathogenic variant, nor has … (more)
Uncertain significance
(Dec 22, 2019)
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: SCV001235993.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with methionine at codon 769 of the PLEKHG5 protein (p.Thr769Met). The threonine residue is weakly 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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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 rs1000775772...

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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