NM_017882.3(CLN6):c.728C>T (p.Ala243Val) AND Ceroid lipofuscinosis, neuronal, 6A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 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:: RCV000665630.8

Allele description [Variation Report for NM_017882.3(CLN6):c.728C>T (p.Ala243Val)]

NM_017882.3(CLN6):c.728C>T (p.Ala243Val)

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.728C>T (p.Ala243Val)

Other names:

p.A243V:GCC>GTC

HGVS:

NC_000015.10:g.68208348G>A
NG_008764.2:g.53864C>T
NM_017882.3:c.728C>TMANE SELECT
NP_060352.1:p.Ala243Val
LRG_832t1:c.728C>T
LRG_832:g.53864C>T
LRG_832p1:p.Ala243Val
NC_000015.9:g.68500686G>A
NM_017882.2:c.728C>T

Protein change:

A243V

Links:

dbSNP: rs767164948

NCBI 1000 Genomes Browser:

rs767164948

Molecular consequence:

NM_017882.3:c.728C>T - 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
SCV000789783	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 17, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789783

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 17, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A.

Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077.

PubMed [citation]

PMID:: 26075876
PMCID:: PMC4502703

Details of each submission

From Counsyl, SCV000789783.1

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

#	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

Last Updated: Nov 24, 2024

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