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NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996681.1
Variation ID:
996681
Description:
single nucleotide variant
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NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)

Allele ID
984340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127663335 (GRCh38) GRCh38 UCSC
9: 130425614 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130425614C>T
NC_000009.12:g.127663335C>T
NG_016623.1:g.56129C>T
... more HGVS
Protein change
P173L, P184L, P187L
Other names
-
Canonical SPDI
NC_000009.12:127663334: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
Likely pathogenic 1 no assertion criteria provided - RCV001291380.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
STXBP1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
655 705

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Autism spectrum disorder
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479854.1
Submitted: (Nov 16, 2020)
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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Title Author Journal Year Link
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Guo H Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 30504930

Record last updated Oct 02, 2021