NM_017882.3(CLN6):c.755G>A (p.Arg252His) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Uncertain significance (Last evaluated: Dec 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000671648.3

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:
Neuronal ceroid lipofuscinosis 6 (CLN6A)
Synonyms:
Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0011144; MedGen: C1866282; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796641Counsylcriteria provided, single submitter
Uncertain significance
(Dec 20, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000804310Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolismno assertion criteria providedPathogenicinheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GESPA: classifying nsSNPs to predict disease association.

Khurana JK, Reeder JE, Shrimpton AE, Thakar J.

BMC Bioinformatics. 2015 Jul 25;16:228. doi: 10.1186/s12859-015-0673-2.

PubMed [citation]
PMID:
26206375
PMCID:
PMC4513380

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

Details of each submission

From Counsyl, SCV000796641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism, SCV000804310.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

Late Infantile NCL

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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