NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 2023
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:: RCV001558244.13

Allele description [Variation Report for NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)]

NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)

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.778G>A (p.Gly260Arg)

HGVS:

NC_000010.11:g.70435399C>T
NG_012448.2:g.17550G>A
NM_001329906.2:c.379G>A
NM_018055.5:c.778G>AMANE SELECT
NP_001316835.1:p.Gly127Arg
NP_060525.3:p.Gly260Arg
NC_000010.10:g.72195155C>T
NM_018055.4:c.778G>A
Q96S42:p.Gly260Arg

Protein change:

G127R; GLY260ARG

Links:

UniProtKB: Q96S42#VAR_062281; OMIM: 601265.0002; dbSNP: rs121909283

NCBI 1000 Genomes Browser:

rs121909283

Molecular consequence:

NM_001329906.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018055.5:c.778G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001780150	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780150

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 16, 2023)

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, SCV001780150.4

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

Description

Identified in multiple patients with complex congenital heart defects and heterotaxy or situs inversus referred for genetic testing at GeneDx and in published literature (Mohapatra et al., 2009; Hagen et al., 2016; Clark et al., 2019); Published functional studies about the effect of this variant on NODAL signaling are conflicting (Mohapatra et al., 2009; Roessler et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19933292, 19553149, 22352765, 28738792, 27637763, 31019026, 31564432, 19064609)

#	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: May 1, 2024

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