NM_001909.5(CTSD):c.505C>G (p.Leu169Val) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Jan 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717869.1

Allele description [Variation Report for NM_001909.5(CTSD):c.505C>G (p.Leu169Val)]

NM_001909.5(CTSD):c.505C>G (p.Leu169Val)

Gene:
CTSD:cathepsin D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)
HGVS:
  • NC_000011.10:g.1757523G>C
  • NG_008655.1:g.11470C>G
  • NM_001909.5:c.505C>GMANE SELECT
  • NP_001900.1:p.Leu169Val
  • NC_000011.9:g.1778753G>C
  • NM_001909.4:c.505C>G
Protein change:
L169V
Links:
dbSNP: rs768487717
NCBI 1000 Genomes Browser:
rs768487717
Molecular consequence:
  • NM_001909.5:c.505C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848729Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848729.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L169V variant (also known as c.505C>G), located in coding exon 5 of the CTSD gene, results from a C to G substitution at nucleotide position 505. The leucine at codon 169 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2021

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