PTPN11:c.1530G>C (p.Gln510His) AND Rasopathy

not current

Clinical significance:conflicting data from submitters, pathogenic;variant of unknown significance (Last evaluated: Mar 1, 2013)
Review status:2 stars out of maximum of 4 stars
conflicting data from submitters (classified by multiple submitters)

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000033555.3

Allele description

PTPN11:c.1530G>C (p.Gln510His)

Gene:

PTPN11:protein tyrosine phosphatase, non-receptor type 11 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.1

Preferred name:

PTPN11:c.1530G>C (p.Gln510His)

HGVS:

NC_000012.11:g.112926910G>C
NG_007459.1:g.75375G>C
NM_002834.3:c.1530G>C
NP_002825.3:p.Gln510His

Protein change:

Q510H

Links:

dbSNP: rs397507550

NCBI 1000 Genomes Browser:

rs397507550

Molecular consequence:

NM_002834.3:c.1530G>C - missense - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rasopathy
Synonyms:: rasopathies; rasopathy
Identifiers:: MedGen: CN166718

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057460	GeneDx	classified by single submitter	MUT	uncertain	clinical testing
SCV000058286	Emory Genetics Laboratory	classified by single submitter	variant of unknown significance (Mar 1, 2013)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057460

GeneDx

classified by single submitter

MUT

uncertain

clinical testing

SCV000058286

Emory Genetics Laboratory

classified by single submitter

variant of unknown significance
(Mar 1, 2013)

not provided

clinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000057460.2

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

Description

Converted during submission to pathogenic.

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

From Emory Genetics Laboratory, SCV000058286.1

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

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

Last Updated: Oct 5, 2013

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