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NM_018941.4(CLN8):c.697C>G (p.Leu233Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2023
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:
RCV003372777.2

Allele description [Variation Report for NM_018941.4(CLN8):c.697C>G (p.Leu233Val)]

NM_018941.4(CLN8):c.697C>G (p.Leu233Val)

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.697C>G (p.Leu233Val)
HGVS:
  • NC_000008.11:g.1780403C>G
  • NG_008656.2:g.29626C>G
  • NM_018941.4:c.697C>GMANE SELECT
  • NP_061764.2:p.Leu233Val
  • NP_061764.2:p.Leu233Val
  • LRG_691t1:c.697C>G
  • LRG_691:g.29626C>G
  • LRG_691p1:p.Leu233Val
  • NC_000008.10:g.1728569C>G
  • NM_018941.3:c.697C>G
Protein change:
L233V
Links:
dbSNP: rs1380901432
NCBI 1000 Genomes Browser:
rs1380901432
Molecular consequence:
  • NM_018941.4:c.697C>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004086475Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004086475.2

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

Description

The c.697C>G (p.L233V) alteration is located in exon 3 (coding exon 2) of the CLN8 gene. This alteration results from a C to G substitution at nucleotide position 697, causing the leucine (L) at amino acid position 233 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024