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NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 27, 2018
Accession:
VCV000645328.1
Variation ID:
645328
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)

Allele ID
636370
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83490176 (GRCh38) GRCh38 UCSC
7: 83119492 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.163988G>T
LRG_1287t1:c.214G>T LRG_1287p1:p.Val72Leu
NC_000007.13:g.83119492C>A
... more HGVS
Protein change
V12L, V72L
Other names
-
Canonical SPDI
NC_000007.14:83490175:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs371960755
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 Sep 27, 2018 RCV000799387.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SEMA3E - - GRCh38
GRCh37
319 338

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 27, 2018)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000939047.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with leucine at codon 72 of the SEMA3E protein (p.Val72Leu). 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.

Text-mined citations for rs371960755...

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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 Nov 27, 2021