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NM_017882.3(CLN6):c.755G>A (p.Arg252His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 13, 2018
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:
RCV002390489.2

Allele description [Variation Report for NM_017882.3(CLN6):c.755G>A (p.Arg252His)]

NM_017882.3(CLN6):c.755G>A (p.Arg252His)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.755G>A (p.Arg252His)
Other names:
p.R252H:CGC>CAC
HGVS:
  • NC_000015.10:g.68208321C>T
  • NG_008764.2:g.53891G>A
  • NM_017882.3:c.755G>AMANE SELECT
  • NP_060352.1:p.Arg252His
  • LRG_832t1:c.755G>A
  • LRG_832:g.53891G>A
  • LRG_832p1:p.Arg252His
  • NC_000015.9:g.68500659C>T
  • NM_017882.2:c.755G>A
  • Q9NWW5:p.Arg252His
Protein change:
R252H
Links:
UniProtKB: Q9NWW5#VAR_066912; dbSNP: rs374681194
NCBI 1000 Genomes Browser:
rs374681194
Molecular consequence:
  • NM_017882.3:c.755G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002675203Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 13, 2018) 		germlineclinical testing

PubMed (2)
[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

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PubMed [citation]
PMID:
21990111

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R, Pesaola F, Guelbert N, Pons P, Oller-Ramírez AM, Rautenberg G, Becerra A, Sims K, Xin W, Cismondi IA, Noher de Halac I.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2301-11. doi: 10.1016/j.bbadis.2015.05.003. Epub 2015 May 11. Review.

PubMed [citation]
PMID:
25976102

Details of each submission

From Ambry Genetics, SCV002675203.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R252H variant (also known as c.755G>A), located in coding exon 7 of the CLN6 gene, results from a G to A substitution at nucleotide position 755. The arginine at codon 252 is replaced by histidine, an amino acid with highly similar properties. This alteration has been detected in two individuals with suspected diagnoses of neuronal ceroid lipofuscinosis (NCL). The first individual also carried the p.F185Lfs*17 CLN6 alteration; however, phase was not confirmed. The second individual did not have a second CLN6 alteration identified (Kousi M et al. Hum. Mutat., 2012 Jan;33:42-63; Kohan R et al. Biochim. Biophys. Acta, 2015 Oct;1852:2301-11). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Nov 10, 2024