NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 3, 2026
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:: RCV006657006.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)]

NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.13

Genomic location:

Preferred name:

NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)

HGVS:

NC_000012.12:g.112454623A>C
NG_007459.1:g.40892A>C
NM_001330437.2:c.585A>C
NM_001374625.1:c.582A>C
NM_002834.5:c.585A>CMANE SELECT
NM_080601.3:c.585A>C
NP_001317366.1:p.Glu195Asp
NP_001361554.1:p.Glu194Asp
NP_002825.3:p.Glu195Asp
NP_002825.3:p.Glu195Asp
NP_542168.1:p.Glu195Asp
LRG_614t1:c.585A>C
LRG_614:g.40892A>C
LRG_614p1:p.Glu195Asp
NC_000012.11:g.112892427A>C
NM_002834.3:c.585A>C
NM_002834.3:c.585A>C

Protein change:

E194D

Molecular consequence:

NM_001330437.2:c.585A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.582A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.585A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.585A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV007555492	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 3, 2026)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV007555492

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 3, 2026)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV007555492.1

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

Description

The p.E195D variant (also known as c.585A>C), located in coding exon 5 of the PTPN11 gene, results from an A to C substitution at nucleotide position 585. The glutamic acid at codon 195 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 16, 2026

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