NM_017882.3(CLN6):c.443T>A (p.Val148Asp) AND Ceroid lipofuscinosis, neuronal, 6A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 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:: RCV000664548.1

Allele description [Variation Report for NM_017882.3(CLN6):c.443T>A (p.Val148Asp)]

NM_017882.3(CLN6):c.443T>A (p.Val148Asp)

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.443T>A (p.Val148Asp)

HGVS:

NC_000015.10:g.68211718A>T
NG_008764.2:g.50494T>A
NM_017882.3:c.443T>AMANE SELECT
NP_060352.1:p.Val148Asp
LRG_832t1:c.443T>A
LRG_832:g.50494T>A
LRG_832p1:p.Val148Asp
NC_000015.9:g.68504056A>T
NM_017882.2:c.443T>A

Protein change:

V148D

Links:

dbSNP: rs1555438678

NCBI 1000 Genomes Browser:

rs1555438678

Molecular consequence:

NM_017882.3:c.443T>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; CLN6-Related Neuronal Ceroid-Lipofuscinosis
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
SCV000788530	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jul 27, 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

SCV000788530

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jul 27, 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

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, et al.

Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15.

PubMed [citation]

PMID:: 25590979
PMCID:: PMC4791490

Details of each submission

From Counsyl, SCV000788530.1

#	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: Aug 5, 2023

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