NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 10, 2013
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:: RCV000187300.1

Allele description [Variation Report for NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)]

NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)

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.1150A>G (p.Ile384Val)

Other names:

p.I384V:ATC>GTC

HGVS:

NC_000011.10:g.1753592T>C
NG_008655.1:g.15401A>G
NM_001909.5:c.1150A>GMANE SELECT
NP_001900.1:p.Ile384Val
NC_000011.9:g.1774822T>C
NM_001909.3:c.1150A>G
NM_001909.4:c.1150A>G

Protein change:

I384V

Links:

dbSNP: rs767863175

NCBI 1000 Genomes Browser:

rs767863175

Molecular consequence:

NM_001909.5:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240882	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Sep 10, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240882

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Sep 10, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000240882.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

p.Ile384Val (ATC>GTC): c.1150 A>G in exon 9 of the CTSD gene (NM_001909.3). The Ile384Val missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. A missense mutation in the adjacent amino acid (Trp383Cys) has been published in a child with cathepsin D deficiency who also had a second mutation on the other allele (Steinfeld et al., 2006). The Ile384Val variant identified was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether Ile384Val is a disease-causing mutation or a rare benign variant.The variant is found in CHILD-EPI panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 7, 2023

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