NM_000444.6(PHEX):c.617T>G (p.Leu206Trp) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 11, 2015
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:: RCV000442393.1

Allele description [Variation Report for NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)]

NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)

Gene:

PHEX:phosphate regulating endopeptidase homolog X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

Preferred name:

NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)

HGVS:

NC_000023.11:g.22077656T>G
NG_007563.2:g.49854T>G
NM_000444.6:c.617T>GMANE SELECT
NM_001282754.2:c.617T>G
NP_000435.3:p.Leu206Trp
NP_001269683.1:p.Leu206Trp
NC_000023.10:g.22095774T>G
NM_000444.4:c.617T>G

Protein change:

L206W

Links:

dbSNP: rs886041694

NCBI 1000 Genomes Browser:

rs886041694

Molecular consequence:

NM_000444.6:c.617T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282754.2:c.617T>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
SCV000516016	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 11, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000516016

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 11, 2015)

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, SCV000516016.4

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

Description

The L206W missense variant in the PHEX gene has been reported previously in association with X-linked Hypophosphatemic Rickets in a father and daughter (Lo et al., 2006). L206W was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. It is a a semi-conservative amino acid substitution, which may impact secondary protein structure as these residuesdiffer in some properties. This substitution occurs at a position that is conserved in mammals. Therefore, we interpret this variant as pathogenic.

#	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: Apr 23, 2022

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