NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Feb 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000724068.4

Allele description [Variation Report for NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)]

NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
HGVS:
  • NC_000009.12:g.132897227G>C
  • NG_012386.1:g.52407C>G
  • NM_000368.4:c.2932C>G
  • NM_000368.5:c.2932C>GMANE SELECT
  • NM_001162426.2:c.2929C>G
  • NM_001162427.2:c.2779C>G
  • NM_001362177.2:c.2569C>G
  • NP_000359.1:p.Leu978Val
  • NP_000359.1:p.Leu978Val
  • NP_001155898.1:p.Leu977Val
  • NP_001155899.1:p.Leu927Val
  • NP_001349106.1:p.Leu857Val
  • LRG_486t1:c.2932C>G
  • LRG_486:g.52407C>G
  • LRG_486p1:p.Leu978Val
  • NC_000009.11:g.135772614G>C
  • Q92574:p.Leu978Val
  • p.(Leu978Val)
Protein change:
L857V
Links:
Tuberous sclerosis database (TSC1): TSC1_00505; UniProtKB: Q92574#VAR_070661; dbSNP: rs397514859
NCBI 1000 Genomes Browser:
rs397514859
Molecular consequence:
  • NM_000368.4:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000368.5:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162426.2:c.2929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162427.2:c.2779C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362177.2:c.2569C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000227887EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 22, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000515002GeneDxcriteria provided, single submitter
Benign
(Feb 28, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PubMed [citation]
PMID:
22161988

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000227887.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000515002.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 23514105, 22161988, 24714658)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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