NM_001384479.1(AGT):c.1060C>T AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 15, 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:: RCV000492929.1

Allele description [Variation Report for NM_001384479.1(AGT):c.1060C>T]

NM_001384479.1(AGT):c.1060C>T

Gene:

AGT:angiotensinogen [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.2

Genomic location:

Preferred name:

NM_001384479.1(AGT):c.1060C>T

Other names:

NM_000029.3:c.1087C>T

HGVS:

NC_000001.11:g.230705970G>A
NG_008836.2:g.13621C>T
NM_001384479.1:c.1060C>TMANE SELECT
NC_000001.10:g.230841716G>A
NG_008836.1:g.13621C>T

Links:

dbSNP: rs778806374

NCBI 1000 Genomes Browser:

rs778806374

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000582348	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 15, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000582348

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 15, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000582348.4

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

Description

The Q363X variant in the AGT gene has been reported previously, in the compound heterozygous state, in a deceased female neonate with renal tubular dysgenesis. She presented with anhydramnios on prenatal ultrasound. The neonatal course was complicated by refractory hypotension, respiratory failure, and persistent anuria. Postmortem examination revealed absent proximal tubules with normal looking kidneys (Lo et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q363X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q363X as a pathogenic variant.

#	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: Nov 4, 2023

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