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NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 11, 2014)
Last evaluated:
Feb 8, 2013
Accession:
VCV000159948.1
Variation ID:
159948
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu)

Allele ID
170147
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53403659 (GRCh38) GRCh38 UCSC
X: 53430591 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773t2:c.2327T>A LRG_773p2:p.Val776Glu
LRG_773:g.24012T>A
NC_000023.10:g.53430591A>T
... more HGVS
Protein change
V776E, V754E
Other names
-
Canonical SPDI
NC_000023.11:53403658:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA272540
dbSNP: rs587784410
VarSome
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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 8, 2013 RCV000147558.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Cornelia de Lange syndrome 2
(X-linked inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000195006.1
Submitted: (Sep 11, 2014)
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.

Text-mined citations for rs587784410...

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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 Oct 08, 2021