NM_017882.3(CLN6):c.357C>G (p.Ile119Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2013
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:: RCV000187096.1

Allele description [Variation Report for NM_017882.3(CLN6):c.357C>G (p.Ile119Met)]

NM_017882.3(CLN6):c.357C>G (p.Ile119Met)

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.357C>G (p.Ile119Met)

Other names:

p.I119M:ATC>ATG

HGVS:

NC_000015.10:g.68211804G>C
NG_008764.2:g.50408C>G
NM_017882.3:c.357C>GMANE SELECT
NP_060352.1:p.Ile119Met
LRG_832t1:c.357C>G
LRG_832:g.50408C>G
LRG_832p1:p.Ile119Met
NC_000015.9:g.68504142G>C
NM_017882.2:c.357C>G

Protein change:

I119M

Links:

dbSNP: rs141950483

NCBI 1000 Genomes Browser:

rs141950483

Molecular consequence:

NM_017882.3:c.357C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240671	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 9, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240671

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 9, 2013)

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, SCV000240671.10

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

Description

p.Ile119Met (ATC>ATG): c.357 C>G in exon 4 of the CLN6 gene (NM_017882.2). The Ile119Met missense change in the CLN6 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is not conserved across species. In silico analysis predicts this variant is likely benign. However, other missense mutations associated with neuronal ceroid lipofuscinosis have been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether Ile119Met is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

#	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: Mar 26, 2023

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