NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe) AND History of neurodevelopmental disorder

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2017
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:: RCV000719789.1

Allele description

NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)

Gene:

PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

Preferred name:

NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)

HGVS:

NC_000023.11:g.23380056G>T
NG_021300.1:g.50189G>T
NM_173495.3:c.817G>TMANE SELECT
NP_775766.2:p.Val273Phe
NC_000023.10:g.23398173G>T
NM_173495.2:c.817G>T

Protein change:

V273F

Links:

dbSNP: rs762133513

NCBI 1000 Genomes Browser:

rs762133513

Molecular consequence:

NM_173495.3:c.817G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850659	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (May 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850659

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(May 10, 2017)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850659.3

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

Description

The p.V273F variant (also known as c.817G>T), located in coding exon 2 of the PTCHD1 gene, results from a G to T substitution at nucleotide position 817. The valine at codon 273 is replaced by phenylalanine, 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 alteration remains unclear.

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

Last Updated: Aug 23, 2022

ClinVar

Relating variation to medicine