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NM_000282.4(PCCA):c.1102G>C (p.Asp368His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Oct 4, 2017
Accession:
VCV000550042.1
Variation ID:
550042
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.1102G>C (p.Asp368His)

Allele ID
546902
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100301496 (GRCh38) GRCh38 UCSC
13: 100953750 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100953750G>C
NC_000013.11:g.100301496G>C
NG_008768.1:g.217414G>C
... more HGVS
Protein change
D368H, D342H, D53H
Other names
-
Canonical SPDI
NC_000013.11:100301495:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555411121
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 Oct 4, 2017 RCV000664662.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCCA - - GRCh38
GRCh37
510 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 04, 2017)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Counsyl
Accession: SCV000788662.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
[Gene mutation analysis in patients with propionic acidemia]. Hu YH Zhonghua er ke za zhi = Chinese journal of pediatrics 2008 PMID: 19099776

Text-mined citations for rs1555411121...

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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