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NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 6, 2019
Accession:
VCV000833715.3
Variation ID:
833715
Description:
single nucleotide variant
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NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)

Allele ID
821994
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 135791838 (GRCh38) GRCh38 UCSC
9: 138683684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.138683684A>C
NC_000009.12:g.135791838A>C
NM_020822.3:c.3544A>C MANE Select NP_065873.2:p.Ile1182Leu missense
... more HGVS
Protein change
I1158L, I1182L
Other names
-
Canonical SPDI
NC_000009.12:135791837:A:C
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 benign 1 criteria provided, single submitter Feb 13, 2019 RCV001034199.2
Uncertain significance 1 criteria provided, single submitter Mar 6, 2019 RCV001270712.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNT1 - - GRCh38
GRCh37
1216 1274

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 06, 2019)
criteria provided, single submitter
Method: clinical testing
KCNT1-related epilepsy
Allele origin: unknown
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001451457.1
Submitted: (Dec 14, 2020)
Evidence details
Comment:
The KCNT1 c.3544A>C (p.Ile1182Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications … (more)
Likely benign
(Feb 13, 2019)
criteria provided, single submitter
Method: clinical testing
Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
Allele origin: germline
Invitae
Accession: SCV001197530.2
Submitted: (Jan 07, 2021)
Evidence details

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.

Record last updated Jun 06, 2021