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_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 14, 2020)
Last evaluated:
Dec 1, 2020
Accession:
VCV000864846.3
Variation ID:
864846
Description:
single nucleotide variant
Help

NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)

Allele ID
855094
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53383112 (GRCh38) GRCh38 UCSC
X: 53410033 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53410033G>A
NC_000023.11:g.53383112G>A
NG_006988.2:g.44559C>T
... more HGVS
Protein change
Q1039*, Q1017*
Other names
-
Canonical SPDI
NC_000023.11:53383111:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 300040.0013
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2020 RCV001072129.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMC1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
453 610

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2020)
no assertion criteria provided
Method: literature only
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH MIDLINE BRAIN DEFECTS
Allele origin: germline
OMIM
Accession: SCV001237472.2
Submitted: (Apr 14, 2020)
Evidence details
Publications
PubMed (1)

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
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Symonds JD Epilepsia 2017 PMID: 28166369

Record last updated Sep 29, 2021