NM_017882.3(CLN6):c.755G>A (p.Arg252His) AND Ceroid lipofuscinosis, neuronal, 6A

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 20, 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:: 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:: Ceroid lipofuscinosis, neuronal, 6A
Synonyms:: Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis, late infantile, variant; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011144; MedGen: C5551375; Orphanet: 168491; OMIM: 601780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796641	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 20, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26206375, 21990111 Citation Link,
SCV000804310	Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	no assertion criteria provided	Pathogenic	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796641

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 20, 2017)

unknown

clinical testing

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

Citation Link,

SCV000804310

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

no assertion criteria provided

Pathogenic

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	1	not provided	not provided	not provided	not provided	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

Description

Late Infantile NCL

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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