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NM_000368.4(TSC1):c.2556G>C (p.Leu852=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Apr 12, 2019)
Last evaluated:
Mar 14, 2018
Accession:
VCV000365515.2
Variation ID:
365515
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.2556G>C (p.Leu852=)

Allele ID
317057
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132900784 (GRCh38) GRCh38 UCSC
9: 135776171 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135776171C>G
NC_000009.12:g.132900784C>G
NM_000368.4:c.2556G>C NP_000359.1:p.Leu852= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA033432
dbSNP: rs770381040
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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 Jun 14, 2016 RCV000307364.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000394856.1
Likely benign 1 criteria provided, single submitter Apr 11, 2017 RCV000530667.1
Likely benign 1 criteria provided, single submitter Mar 14, 2018 RCV000828747.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1871 1909

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Focal Cortical Dysplasia of Taylor
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478205.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Tuberous Sclerosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000478206.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Apr 11, 2017)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 1
Allele origin: germline
Invitae
Accession: SCV000641580.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Mar 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000970447.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)

Citations for this variant

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 27, 2019