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NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2019
Accession:
VCV000855819.2
Variation ID:
855819
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)

Allele ID
833862
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83402699 (GRCh38) GRCh38 UCSC
7: 83032015 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.251465A>T
LRG_1287t1:c.1076A>T LRG_1287p1:p.His359Leu
NC_000007.13:g.83032015T>A
... more HGVS
Protein change
H359L, H299L
Other names
-
Canonical SPDI
NC_000007.14:83402698:T:A
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 Jul 30, 2019 RCV001061159.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SEMA3E - - GRCh38
GRCh37
308 327

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 30, 2019)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV001225892.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with leucine at codon 359 of the SEMA3E protein (p.His359Leu). The histidine 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