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NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 28, 2017
Accession:
VCV000384752.2
Variation ID:
384752
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys)

Allele ID
378480
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53409103 (GRCh38) GRCh38 UCSC
X: 53436034 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.18568G>A
NC_000023.10:g.53436034C>T
NC_000023.11:g.53409103C>T
... more HGVS
Protein change
E480K, E502K
Other names
-
Canonical SPDI
NC_000023.11:53409102:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16608533
dbSNP: rs1057522040
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 28, 2017 RCV000429287.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525770.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E502K 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

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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.

Text-mined citations for rs1057522040...

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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