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NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 9, 2020
Accession:
VCV000663717.9
Variation ID:
663717
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=)

Allele ID
650124
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53382279 (GRCh38) GRCh38 UCSC
X: 53409200 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.45392C>T
NC_000023.10:g.53409200G>A
NC_000023.11:g.53382279G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:53382278:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
dbSNP: rs374246357
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 Apr 9, 2020 RCV000821652.3
Likely benign 1 criteria provided, single submitter Aug 1, 2018 RCV000999450.2
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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
(Apr 09, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV000962421.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change affects codon 1130 of the SMC1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely benign
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001156063.7
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 rs374246357...

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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