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NM_000368.4(TSC1):c.363+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 9, 2018
Accession:
VCV000049029.2
Variation ID:
49029
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.363+1G>A

Allele ID
58191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132925586 (GRCh38) GRCh38 UCSC
9: 135800973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.132925586C>T
NC_000009.11:g.135800973C>T
NM_001162427.2:c.210+1615G>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA007428
Tuberous sclerosis database (TSC1): TSC1_00396
dbSNP: rs118203372
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 9, 2018 RCV000812045.1
not provided 1 no assertion provided - RCV000042280.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1869 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 09, 2018)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 1
Allele origin: germline
Invitae
Accession: SCV000952346.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects a donor splice site in intron 5 of the TSC1 gene. It is expected to disrupt RNA splicing and likely results ... (more)
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC1)
Accession: SCV000066069.3
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
LOVD v.2.0: the next generation in gene variant databases. Fokkema IF Human mutation 2011 PMID: 21520333
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Au KS Genetics in medicine : official journal of the American College of Medical Genetics 2007 PMID: 17304050
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. van Slegtenhorst M Journal of medical genetics 1999 PMID: 10227394

Record last updated Oct 27, 2019