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NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 26, 2021)
Last evaluated:
Apr 14, 2019
Accession:
VCV000234903.4
Variation ID:
234903
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)

Allele ID
231497
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6472999 (GRCh38) GRCh38 UCSC
1: 6533059 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.52011T>C
NM_198681.3:c.1202T>C NP_941374.2:p.Ile401Thr missense
NC_000001.10:g.6533059A>G
... more HGVS
Protein change
I324T, I401T, I393T, I361T
Other names
-
Canonical SPDI
NC_000001.11:6472998:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00005
Links
ClinGen: CA561699
dbSNP: rs746862312
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 14, 2019 RCV000222151.3
Uncertain significance 1 criteria provided, single submitter Jul 26, 2018 RCV000797810.1
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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
675 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 19, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279989.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The I324T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was … (more)
Uncertain significance
(Jul 26, 2018)
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: SCV000937391.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 324 of the PLEKHG5 protein (p.Ile324Thr). The isoleucine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 14, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713776.1
Submitted: (May 26, 2021)
Evidence details

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 rs746862312...

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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 24, 2021