NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) AND Tuberous sclerosis 2

Clinical significance:Uncertain significance (Last evaluated: Sep 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000812345.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)]

NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
Other names:
p.L361V:CTG>GTG
HGVS:
  • NC_000016.10:g.2060775C>G
  • NG_005895.1:g.16470C>G
  • NM_000548.5:c.1081C>GMANE SELECT
  • NM_001077183.2:c.1081C>G
  • NM_001114382.2:c.1081C>G
  • NM_001318827.1:c.970C>G
  • NM_001318829.1:c.934C>G
  • NM_001318831.1:c.481C>G
  • NM_001318832.1:c.1114C>G
  • NM_001363528.1:c.1081C>G
  • NM_001370404.1:c.1081C>G
  • NM_001370405.1:c.1081C>G
  • NM_021055.2:c.1081C>G
  • NP_000539.2:p.Leu361Val
  • NP_001070651.1:p.Leu361Val
  • NP_001107854.1:p.Leu361Val
  • NP_001305756.1:p.Leu324Val
  • NP_001305758.1:p.Leu312Val
  • NP_001305760.1:p.Leu161Val
  • NP_001305761.1:p.Leu372Val
  • NP_001350457.1:p.Leu361Val
  • NP_001357333.1:p.Leu361Val
  • NP_001357334.1:p.Leu361Val
  • NP_066399.2:p.Leu361Val
  • LRG_487t1:c.1081C>G
  • LRG_487:g.16470C>G
  • NC_000016.9:g.2110776C>G
  • NM_000548.3:c.1081C>G
  • NM_000548.4:c.1081C>G
Protein change:
L161V
Links:
dbSNP: rs796053483
NCBI 1000 Genomes Browser:
rs796053483
Molecular consequence:
  • NM_000548.5:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.2:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.2:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.1:c.970C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.1:c.934C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.1:c.481C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.1:c.1114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.2:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tuberous sclerosis 2 (TSC2)
Identifiers:
MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000952656Invitaecriteria provided, single submitter
Uncertain significance
(Sep 17, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA.

Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14.

PubMed [citation]
PMID:
29655203

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L.

Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.

PubMed [citation]
PMID:
30763456
PMCID:
PMC6593842
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000952656.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces leucine with valine at codon 361 of the TSC2 protein (p.Leu361Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual with epilepsy and neurodevelopmental disorders (PMID: 29655203) and an individual with clinical features of tuberous sclerosis (PMID: 30763456). ClinVar contains an entry for this variant (Variation ID: 207710). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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

Last Updated: Oct 6, 2021

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