NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) AND Upshaw-Schulman syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 7, 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:: RCV000516791.3

Allele description [Variation Report for NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)]

NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)

Gene:

ADAMTS13:ADAM metallopeptidase with thrombospondin type 1 motif 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)

HGVS:

NC_000009.12:g.133426236C>T
NG_011934.2:g.16898C>T
NM_139025.5:c.577C>T
NM_139026.6:c.577C>T
NM_139027.6:c.577C>TMANE SELECT
NP_620594.1:p.Arg193Trp
NP_620594.1:p.Arg193Trp
NP_620595.1:p.Arg193Trp
NP_620596.2:p.Arg193Trp
LRG_544t1:c.577C>T
LRG_544:g.16898C>T
LRG_544p1:p.Arg193Trp
NC_000009.11:g.136291356C>T
NM_139025.3:c.577C>T
NM_139025.4:c.577C>T
NR_024514.3:n.780C>T
Q76LX8:p.Arg193Trp

Protein change:

R193W

Links:

UniProtKB: Q76LX8#VAR_027113; UniProtKB/Swiss-Prot: VAR_027113; dbSNP: rs281875287

NCBI 1000 Genomes Browser:

rs281875287

Molecular consequence:

NM_139025.5:c.577C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_139026.6:c.577C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_139027.6:c.577C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_024514.3:n.780C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Upshaw-Schulman syndrome (TTP)
Synonyms:: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY; Congenital thrombotic thrombocytopenic purpura
Identifiers:: MONDO: MONDO:0010122; MedGen: C1268935; OMIM: 274150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000616341	GenePathDx, GenePath diagnostics	criteria provided, single submitter (GenePathDx_Criteria_classificationV2)	Likely pathogenic (Jul 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000616341

GenePathDx, GenePath diagnostics

criteria provided, single submitter

(GenePathDx_Criteria_classificationV2)

Likely pathogenic
(Jul 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indian	germline	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From GenePathDx, GenePath diagnostics, SCV000616341.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Indian	1	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	germline	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Nov 10, 2024

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