NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 29, 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:: RCV001264034.4

Allele description [Variation Report for NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)]

NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)

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.427C>T (p.Gln143Ter)

HGVS:

NC_000015.10:g.68211734G>A
NG_008764.2:g.50478C>T
NM_017882.3:c.427C>TMANE SELECT
NP_060352.1:p.Gln143Ter
LRG_832t1:c.427C>T
LRG_832:g.50478C>T
LRG_832p1:p.Gln143Ter
NC_000015.9:g.68504072G>A

Protein change:

Q143*

Links:

dbSNP: rs2093205953

NCBI 1000 Genomes Browser:

rs2093205953

Molecular consequence:

NM_017882.3:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Name:: Adult neuronal ceroid lipofuscinosis
Synonyms:: Kufs disease, autosomal recessive; Kufs disease
Identifiers:: MONDO: MONDO:0019260; MedGen: C0022797; Orphanet: 228340; Orphanet: 79262

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442134	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (May 29, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442134

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(May 29, 2019)

unknown

clinical testing

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

Details of each submission

From Myriad Genetics, Inc., SCV001442134.1

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

#	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: Jul 15, 2024

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