Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_020361.4(CPA6):c.994T>C (p.Tyr332His)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 13, 2017)
Last evaluated:
Feb 6, 2017
Accession:
VCV000437415.1
Variation ID:
437415
Description:
single nucleotide variant
Help

NM_020361.4(CPA6):c.994T>C (p.Tyr332His)

Allele ID
430963
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q13.2
Genomic location
8: 67434085 (GRCh38) GRCh38 UCSC
8: 68346320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.68346320A>G
NC_000008.11:g.67434085A>G
NM_020361.4:c.994T>C NP_065094.3:p.Tyr332His missense
NG_027682.1:g.317301T>C
Protein change
Y332H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554662194
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 6, 2017 RCV000499409.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CPA6 - - GRCh38
GRCh37
37 98
LOC102724708 - - - GRCh38 - 51

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 06, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, familial temporal lobe, 5
Allele origin: paternal
Center of Genomic medicine, Geneva,University Hospital of Geneva
Accession: SCV000598122.1
Submitted: (Jun 13, 2017)
Evidence details
Comment:
This variant (VUS in CPA6) was identified in a young patient with development delay, epilepsy and microcephaly, in combination with another pathogenic variant in DYRK1A.

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019