Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 2, 2019
Accession:
VCV000948652.2
Variation ID:
948652
Description:
single nucleotide variant
Help

NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)

Allele ID
925478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 135765033 (GRCh38) GRCh38 UCSC
9: 138656879 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.135765033C>A
NC_000009.11:g.138656879C>A
NM_020822.3:c.1038C>A MANE Select NP_065873.2:p.Phe346Leu missense
... more HGVS
Protein change
F346L, F301L
Other names
-
Canonical SPDI
NC_000009.12:135765032:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 2, 2019 RCV001219954.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNT1 - - GRCh38
GRCh37
1216 1274

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 02, 2019)
criteria provided, single submitter
Method: clinical testing
Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
Allele origin: germline
Invitae
Accession: SCV001391921.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces phenylalanine with leucine at codon 346 of the KCNT1 protein (p.Phe346Leu). The phenylalanine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. Tsang MH Epilepsia open 2018 PMID: 30868116
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. Rim JH BMC medical genomics 2018 PMID: 29390993

Record last updated May 10, 2021