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NM_018941.3(CLN8):c.562_563delCT

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: May 19, 2021)
Last evaluated:
May 14, 2021
Accession:
VCV000056713.3
Variation ID:
56713
Description:
2bp microsatellite
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NM_018941.4(CLN8):c.562_563del (p.Leu188fs)

Allele ID
71352
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
8p23.3
Genomic location
8: 1780265-1780266 (GRCh38) GRCh38 UCSC
8: 1728431-1728432 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1728432CT[1]
NC_000008.11:g.1780266CT[1]
NG_008656.2:g.29489CT[1]
... more HGVS
Protein change
L188fs
Other names
-
Canonical SPDI
NC_000008.11:1780264:TCTCT:TCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA264179
dbSNP: rs386834132
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, multiple submitters, no conflicts May 14, 2021 RCV000050126.3
Pathogenic 1 criteria provided, single submitter Sep 17, 2020 RCV001385516.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN8 - - GRCh38
GRCh38
GRCh37
294 434

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Sep 16, 2014)
criteria provided, single submitter
Method: literature only
Ceroid lipofuscinosis neuronal 8
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000220700.1
Submitted: (Mar 11, 2015)
Publications:
PubMed (3)
PubMed: 108612961516039722220808
Pathogenic
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001585397.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 22220808
Comment:
This sequence change results in a premature translational stop signal in the CLN8 gene (p.Leu188Valfs*58). While this is not anticipated to result in nonsense mediated … (more)
Likely pathogenic
(May 14, 2021)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 8
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623276.1
Submitted: (May 19, 2021)
Publications:
PubMed (3)
PubMed: 253266373091916322220808
Comment:
Variant summary: CLN8 c.562_563delCT (p.Leu188ValfsX58) results in a premature termination codon located in the last exon therefore it is not expected to elicit nonsense mediated … (more)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Ceroid lipofuscinosis neuronal 8
Affected status: not provided
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082536.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. Parvin S Neuromolecular medicine 2019 PMID: 30919163
Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H JAMA 2014 PMID: 25326637
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. Allen NM Clinical genetics 2012 PMID: 22220808
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. Lonka L Journal of neuroscience research 2004 PMID: 15160397
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Lonka L Human molecular genetics 2000 PMID: 10861296

Text-mined citations for rs386834132...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 12, 2022