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NM_018941.3(CLN8):c.385C>T (p.Arg129Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 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:
RCV000175906.3

Allele description

NM_018941.3(CLN8):c.385C>T (p.Arg129Trp)

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_018941.3(CLN8):c.385C>T (p.Arg129Trp)
HGVS:
  • NC_000008.11:g.1771439C>T
  • NG_008656.2:g.20662C>T
  • NM_018941.3:c.385C>T
  • NP_061764.2:p.Arg129Trp
  • LRG_691t1:c.385C>T
  • LRG_691:g.20662C>T
  • LRG_691p1:p.Arg129Trp
  • NC_000008.10:g.1719605C>T
Protein change:
R129W
Links:
dbSNP: rs143694317
NCBI 1000 Genomes Browser:
rs143694317
Molecular consequence:
  • NM_018941.3:c.385C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620010GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 9, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the CLN8 gene. The R129W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R129W variant is observed in 3/16512 alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R129W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 31, 2019