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_001281463.1(SMC1A):c.245A>G (p.Glu82Gly)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Feb 16, 2016
Accession:
VCV000432073.2
Variation ID:
432073
Description:
single nucleotide variant
Help

NM_001281463.1(SMC1A):c.245A>G (p.Glu82Gly)

Allele ID
426478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53414858 (GRCh38) GRCh38 UCSC
X: 53441807 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53441807T>C
NC_000023.11:g.53414858T>C
NM_001281463.1:c.245A>G NP_001268392.1:p.Glu82Gly missense
... more HGVS
Protein change
E104G, E82G
Other names
-
Canonical SPDI
NC_000023.11:53414857:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA413131844
dbSNP: rs1556891059
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 Feb 16, 2016 RCV000498677.1
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
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589748.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E104G variant in the SMC1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1556891059...

Help
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 Feb 27, 2021