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NM_000368.4(TSC1):c.3389A>G (p.Lys1130Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 6, 2018
Accession:
VCV000654828.1
Variation ID:
654828
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.3389A>G (p.Lys1130Arg)

Allele ID
637823
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132896341 (GRCh38) GRCh38 UCSC
9: 135771728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135771728T>C
NC_000009.12:g.132896341T>C
NM_000368.4:c.3389A>G NP_000359.1:p.Lys1130Arg missense
... more HGVS
Protein change
K1079R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Nov 6, 2018 RCV000810874.1
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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
1869 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 06, 2018)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 1
Allele origin: germline
Invitae
Accession: SCV000951111.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 1130 of the TSC1 protein (p.Lys1130Arg). The lysine residue is moderately conserved and there is a ... (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