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NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 13, 2020
Accession:
VCV000846527.2
Variation ID:
846527
Description:
single nucleotide variant
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NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)

Allele ID
845356
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42910978 (GRCh38) GRCh38 UCSC
17: 41062995 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41062995A>G
NC_000017.11:g.42910978A>G
NG_011808.1:g.15181A>G
... more HGVS
Protein change
Y209C
Other names
-
Canonical SPDI
NC_000017.11:42910977:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 13, 2020 RCV001049851.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PC1 - - GRCh38
GRCh37
294 302

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 13, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: germline
Invitae
Accession: SCV001213924.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tyrosine with cysteine at codon 209 of the G6PC protein (p.Tyr209Cys). The tyrosine residue is highly 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
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. Angaroni CJ Molecular genetics and metabolism 2004 PMID: 15542400

Record last updated Oct 08, 2021