NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Aug 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716673.1

Allele description [Variation Report for NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg)]

NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg)

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.1036G>C (p.Gly346Arg)
HGVS:
  • NC_000011.10:g.1753838C>G
  • NG_008655.1:g.15155G>C
  • NM_001909.5:c.1036G>CMANE SELECT
  • NP_001900.1:p.Gly346Arg
  • NC_000011.9:g.1775068C>G
  • NM_001909.4:c.1036G>C
Protein change:
G346R
Links:
dbSNP: rs1565018716
NCBI 1000 Genomes Browser:
rs1565018716
Molecular consequence:
  • NM_001909.5:c.1036G>C - 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
SCV000847515Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 15, 2016)
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, SCV000847515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.G346R variant (also known as c.1036G>C), located in coding exon 8 of the CTSD gene, results from a G to C substitution at nucleotide position 1036. The glycine at codon 346 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. This amino acid position is poorly 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: Dec 7, 2020

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