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NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
May 2, 2018
Accession:
VCV000436820.1
Variation ID:
436820
Description:
single nucleotide variant
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NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)

Allele ID
430843
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53411825 (GRCh38) GRCh38 UCSC
X: 53438775 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.15846A>G
LRG_773t1:c.1124A>G LRG_773p1:p.Asn375Ser
LRG_773t2:c.1190A>G LRG_773p2:p.Asn397Ser
... more HGVS
Protein change
N375S, N397S
Other names
-
Canonical SPDI
NC_000023.11:53411824:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00000
Links
ClinGen: CA10420591
dbSNP: rs782697006
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 31, 2016 RCV000499405.1
Uncertain significance 1 criteria provided, single submitter May 2, 2018 RCV000704265.1
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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
Uncertain significance
(May 31, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597206.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(May 02, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV000833207.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces asparagine with serine at codon 397 of the SMC1A protein (p.Asn397Ser). The asparagine residue is highly conserved and there is a … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs782697006...

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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 24, 2021