NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys) AND Tourette syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001109724.4

Allele description [Variation Report for NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)]

NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)

Gene:
SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q31.1
Genomic location:
Preferred name:
NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)
HGVS:
  • NC_000013.11:g.83879757C>T
  • NG_016748.1:g.7637G>A
  • NM_001281503.2:c.1751G>AMANE SELECT
  • NM_052910.2:c.1751G>A
  • NP_001268432.1:p.Arg584Lys
  • NP_443142.1:p.Arg584Lys
  • NC_000013.10:g.84453892C>T
Protein change:
R584K
Links:
dbSNP: rs1035448844
NCBI 1000 Genomes Browser:
rs1035448844
Molecular consequence:
  • NM_001281503.2:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052910.2:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tourette syndrome
Identifiers:
MONDO: MONDO:0007661; MedGen: C0040517; OMIM: 137580

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001267090Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

SLITRK1 mutations in trichotillomania.

Zuchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA, Wright HH, Ashley-Koch A.

Mol Psychiatry. 2006 Oct;11(10):887-9. No abstract available.

PubMed [citation]
PMID:
17003809

Protein tyrosine phosphatases PTPδ, PTPσ, and LAR: presynaptic hubs for synapse organization.

Takahashi H, Craig AM.

Trends Neurosci. 2013 Sep;36(9):522-34. doi: 10.1016/j.tins.2013.06.002. Epub 2013 Jul 5. Review.

PubMed [citation]
PMID:
23835198
PMCID:
PMC3789601
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001267090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jul 16, 2023