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NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 31, 2018)
Last evaluated:
Apr 13, 2016
Accession:
VCV000237564.1
Variation ID:
237564
Description:
single nucleotide variant
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NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly)

Allele ID
242682
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 31259072 (GRCh38) GRCh38 UCSC
17: 29586090 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.29586090A>G
NC_000017.11:g.31259072A>G
NM_000267.3:c.4310A>G NP_000258.1:p.Glu1437Gly missense
... more HGVS
Protein change
E1437G, E1458G
Other names
-
Canonical SPDI
NC_000017.11:31259071:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA10583503
dbSNP: rs878853894
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Apr 13, 2016 RCV000231680.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7678 7888

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 13, 2016)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Invitae
Accession: SCV000284459.3
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces glutamic acid with glycine at codon 1437 of the NF1 protein (p.Glu1437Gly). The glutamic acid residue is moderately conserved and there … (more)
Uncertain significance
(Apr 01, 2016)
no assertion criteria provided
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000692354.1
Submitted: (Jan 31, 2018)
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 rs878853894...

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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 Apr 17, 2020