NM_018055.5(NODAL):c.1021G>T (p.Val341Leu) AND congenital heart defects

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 8, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003328104.2

Allele description [Variation Report for NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)]

NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)

Gene:

NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)

HGVS:

NC_000010.11:g.70432959C>A
NG_012448.2:g.19990G>T
NM_001329906.2:c.622G>T
NM_018055.5:c.1021G>TMANE SELECT
NP_001316835.1:p.Val208Leu
NP_060525.3:p.Val341Leu
NC_000010.10:g.72192715C>A

Protein change:

V208L

Molecular consequence:

NM_001329906.2:c.622G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018055.5:c.1021G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: congenital heart defects
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003840202	Yamagishi Lab, Dept of Pediatrics, Keio University school of medicine	no assertion criteria provided	Uncertain significance (Mar 8, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003840202

Yamagishi Lab, Dept of Pediatrics, Keio University school of medicine

no assertion criteria provided

Uncertain significance
(Mar 8, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

[Change of standards or diagnostically relevant test profiles in WISC?].

Kornmann R, Müller-Edenborn E.

Prax Kinderpsychol Kinderpsychiatr. 1975 Feb-Mar;24(2):48-51. German. No abstract available.

PubMed [citation]

PMID:: 1135141

Details of each submission

From Yamagishi Lab, Dept of Pediatrics, Keio University school of medicine, SCV003840202.1

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

Description

In the analyses of gDNA from the parents, a heterozygous variant in NODAL (c.1021G>T, p.V341L) common to the siblings was found in the father, and TBX20 (c.991A>G, p.T331A) common to the siblings were found in the mother.

Description

only with TBX20 mutation, congenital heart disease occurred

#	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	not provided	not provided

Last Updated: Sep 23, 2023

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