NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys)

NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys)

Variant type:
single nucleotide variant
Cytogenetic location:
17p13
Genomic location:
  • Chr17:3659974 (on Assembly GRCh38)
  • Chr17:3563268 (on Assembly GRCh37)
Protein change:
N323K
HGVS:
  • NG_012489.1:g.28507C>G
  • NM_001031681.2:c.969C>G
  • NC_000017.11:g.3659974C>G
  • NC_000017.10:g.3563268C>G
  • NP_001026851.2:p.Asn323Lys
Links:
NCBI 1000 Genomes Browser:
rs121908128
Molecular consequence:
NM_001031681.2:c.969C>G: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

1 Affected Gene

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Mar 19, 2010)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000024884

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Thoene et al. (1999) described 2 sibs in Taiwan with intermediate cystinosis (219900) who had linear growth and weight gain within 2 standard deviations of the mean for their ethnic group until the ages of 13 and 14 years when their plasma creatinine concentrations were 1.2 mg per deciliter and 3.3 mg per deciliter, respectively. They were found to be homozygous for a 1308C-G mutation in the CTNS gene, resulting in the substitution of lysine for the conserved asparagine at position 323 (N323K). Presumably, this mutation allowed for some residual cystine transport, accounting for the mild clinical presentation.

Last Updated: Aug 5, 2014

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