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NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV000426342.3
Variation ID:
426342
Description:
single nucleotide variant
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NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys)

Allele ID
414808
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6473391 (GRCh38) GRCh38 UCSC
1: 6533451 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6533451C>T
NC_000001.11:g.6473391C>T
NM_001042663.2:c.823G>A NP_001036128.1:p.Glu275Lys missense
... more HGVS
Protein change
E219K, E288K, E298K, E296K, E275K
Other names
-
Canonical SPDI
NC_000001.11:6473390:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA561778
dbSNP: rs774845320
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 20, 2017 RCV000489343.1
Uncertain significance 1 criteria provided, single submitter Jun 16, 2020 RCV001343270.1
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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
669 733

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000576755.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E219K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E219K … (more)
Uncertain significance
(Jun 16, 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: SCV001537239.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 219 of the PLEKHG5 protein (p.Glu219Lys). The glutamic acid residue is moderately conserved and there … (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 rs774845320...

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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 Jun 14, 2021