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NM_000401.3(EXT2):c.1118T>A (p.Val373Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000547989.3
Variation ID:
547989
Description:
single nucleotide variant
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NM_000401.3(EXT2):c.1118T>A (p.Val373Asp)

Allele ID
538422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 44126895 (GRCh38) GRCh38 UCSC
11: 44148445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.44126895T>A
NC_000011.9:g.44148445T>A
NM_000401.3:c.1118T>A NP_000392.3:p.Val373Asp missense
... more HGVS
Protein change
V340D, V373D
Other names
EXT2, VAL373ASP (rs371996957)
Canonical SPDI
NC_000011.10:44126894:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
OMIM: 608210.0010
dbSNP: rs371996957
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jul 24, 2017 RCV000660595.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001104529.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EXT2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
326 350

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 24, 2017)
criteria provided, single submitter
Method: clinical testing
Seizures, scoliosis, and macrocephaly syndrome
Allele origin: paternal
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000782709.1
Submitted: (Feb 28, 2018)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple exostoses type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001261402.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Pathogenic
(Aug 02, 2019)
no assertion criteria provided
Method: literature only
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Allele origin: germline
OMIM
Accession: SCV000930613.1
Submitted: (Aug 02, 2019)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Developmental delay, coarse facial features, and epilepsy in a patient with <i>EXT2</i> gene variants. Gupta A Clinical case reports 2019 PMID: 30997052

Text-mined citations for rs371996957...

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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 Aug 27, 2021