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NM_176787.5(PIGN):c.654T>G (p.His218Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 19, 2021)
Last evaluated:
Oct 28, 2019
Accession:
VCV000539554.5
Variation ID:
539554
Description:
single nucleotide variant
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NM_176787.5(PIGN):c.654T>G (p.His218Gln)

Allele ID
532347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q21.33
Genomic location
18: 62148234 (GRCh38) GRCh38 UCSC
18: 59815467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.62148234A>C
NC_000018.9:g.59815467A>C
NM_176787.5:c.654T>G MANE Select NP_789744.1:p.His218Gln missense
... more HGVS
Protein change
H218Q
Other names
-
Canonical SPDI
NC_000018.10:62148233:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA301686018
dbSNP: rs1035743375
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 28, 2019 RCV000649307.4
Likely pathogenic 1 no assertion criteria provided Mar 16, 2021 RCV001569047.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PIGN - - GRCh38
GRCh37
516 597

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 28, 2019)
criteria provided, single submitter
Method: clinical testing
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Allele origin: germline
Invitae
Accession: SCV000771134.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with glutamine at codon 218 of the PIGN protein (p.His218Gln). The histidine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Allele origin: paternal
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001554481.1
Submitted: (Mar 21, 2021)
Evidence details
Likely pathogenic
(Mar 16, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001793030.1
Submitted: (Aug 19, 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 has a deleterious … (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 rs1035743375...

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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 Aug 21, 2021