U.S. flag

An official website of the United States government

NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2022
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:
RCV002411628.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)]

NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)

Gene:
SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)
HGVS:
  • NC_000020.11:g.763769G>A
  • NG_027687.2:g.17217C>T
  • NM_001370085.1:c.802C>T
  • NM_001370086.1:c.802C>T
  • NM_033409.4:c.802C>TMANE SELECT
  • NP_001357014.1:p.Arg268Trp
  • NP_001357015.1:p.Arg268Trp
  • NP_212134.3:p.Arg268Trp
  • LRG_1394t1:c.802C>T
  • LRG_1394:g.17217C>T
  • LRG_1394p1:p.Arg268Trp
  • NC_000020.10:g.744413G>A
  • NG_027687.1:g.9816C>T
  • NM_001370086.1:c.802C>T
  • NM_033409.3:c.802C>T
Protein change:
R268W
Links:
dbSNP: rs145498634
NCBI 1000 Genomes Browser:
rs145498634
Molecular consequence:
  • NM_001370085.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370086.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033409.4:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV002675972Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 12, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, et al.

Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32579787

Details of each submission

From Ambry Genetics, SCV002675972.2

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

Description

The p.R268W variant (also known as c.802C>T), located in coding exon 2 of the SLC52A3 gene, results from a C to T substitution at nucleotide position 802. The arginine at codon 268 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration was detected in the homozygous state in an individual with Madras motor neuron disease; however, clinical details were limited (Tunca C et al. Hum Mutat, 2020 08;41:e7-e45). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024