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NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 30, 2019
Accession:
VCV000854862.2
Variation ID:
854862
Description:
single nucleotide variant
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NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)

Allele ID
850188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53381065 (GRCh38) GRCh38 UCSC
X: 53407986 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_773:g.46606G>A
NC_000023.10:g.53407986C>T
NC_000023.11:g.53381065C>T
... more HGVS
Protein change
V1154I, V1132I
Other names
-
Canonical SPDI
NC_000023.11:53381064:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Nov 30, 2019 RCV001059994.2
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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
(Nov 30, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV001224652.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 1154 of the SMC1A protein (p.Val1154Ile). The valine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021