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NM_018941.4(CLN8):c.209G>A (p.Arg70His) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 3, 2021
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:
RCV000623329.4

Allele description [Variation Report for NM_018941.4(CLN8):c.209G>A (p.Arg70His)]

NM_018941.4(CLN8):c.209G>A (p.Arg70His)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
HGVS:
  • NC_000008.11:g.1771263G>A
  • NG_008656.2:g.20486G>A
  • NM_018941.4:c.209G>AMANE SELECT
  • NP_061764.2:p.Arg70His
  • NP_061764.2:p.Arg70His
  • LRG_691t1:c.209G>A
  • LRG_691:g.20486G>A
  • LRG_691p1:p.Arg70His
  • NC_000008.10:g.1719429G>A
  • NM_018941.3:c.209G>A
  • Q9UBY8:p.Arg70His
Protein change:
R70H
Links:
UniProtKB: Q9UBY8#VAR_066920; dbSNP: rs386834124
NCBI 1000 Genomes Browser:
rs386834124
Molecular consequence:
  • NM_018941.4:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743028Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely pathogenic
(Nov 3, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PubMed [citation]
PMID:
21990111

Details of each submission

From Ambry Genetics, SCV000743028.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.209G>A (p.R70H) alteration is located in exon 2 (coding exon 1) of the CLN8 gene. This alteration results from a G to A substitution at nucleotide position 209, causing the arginine (R) at amino acid position 70 to be replaced by a histidine (H). Based on data from gnomAD, the A allele has an overall frequency of <0.01% (7/251400) total alleles studied. The highest observed frequency was 0.01% (2/18394) of East Asian alleles. In a late infantile neuronal ceroid lipofuscinosis cohort, this alteration was detected as homozygous in two unrelated individuals and as compound heterozygous with a second CLN8 variant in another unrelated individual (Kousi, 2012). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024