NM_017882.3(CLN6):c.755G>A (p.Arg252His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 2019
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:: RCV000187105.6

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240680	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 4, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240680

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 4, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000240680.14

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Previously reported two patients with suspected neuronal ceroid lipofuscinosis (NCL); the first patient also had a frameshift variant in CLN6; however, phase was unknown and functional/EM studies were not performed; the second patient did not have a second CLN6 variant clearly identified but EM studies were consistent with the diagnosis of NCL (Kousi et al., 2012); This variant is associated with the following publications: (PMID: 21990111)

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

Last Updated: Nov 10, 2024

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