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NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 22, 2018
Accession:
VCV000662126.8
Variation ID:
662126
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu)

Allele ID
650127
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53405532 (GRCh38) GRCh38 UCSC
X: 53432464 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53432464A>C
NC_000023.11:g.53405532A>C
NG_006988.2:g.22139T>G
... more HGVS
Protein change
D624E, D602E
Other names
-
Canonical SPDI
NC_000023.11:53405531:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1369059288
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 Oct 22, 2018 RCV000819704.1
Uncertain significance 1 criteria provided, single submitter Aug 1, 2018 RCV000999455.2
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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
Uncertain significance
(Oct 22, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV000960380.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 624 of the SMC1A protein (p.Asp624Glu). The aspartic acid residue is highly conserved and … (more)
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001156068.7
Submitted: (Jul 04, 2021)
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 rs1369059288...

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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