NM_198565.3(NRROS):c.1222A>C (p.Asn408His) AND Seizures, early-onset, with neurodegeneration and brain calcifications

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 16, 2021
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:: RCV001797023.5

Allele description [Variation Report for NM_198565.3(NRROS):c.1222A>C (p.Asn408His)]

NM_198565.3(NRROS):c.1222A>C (p.Asn408His)

Gene:

NRROS:negative regulator of reactive oxygen species [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_198565.3(NRROS):c.1222A>C (p.Asn408His)

HGVS:

NC_000003.12:g.196660865A>C
NM_198565.3:c.1222A>CMANE SELECT
NP_940967.1:p.Asn408His
NC_000003.11:g.196387736A>C
NM_198565.2:c.1222A>C

Protein change:

N408H

Links:

dbSNP: rs2108643995

NCBI 1000 Genomes Browser:

rs2108643995

Molecular consequence:

NM_198565.3:c.1222A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Seizures, early-onset, with neurodegeneration and brain calcifications
Identifiers:: MONDO: MONDO:0030033; MedGen: C5394359; OMIM: 618875

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002038550	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020)	Uncertain significance (Jun 16, 2021)	unknown	clinical testing	Citation Link,
SCV002556361	Wendy Chung Laboratory, Columbia University Medical Center	no assertion criteria provided	Uncertain significance (Aug 2, 2022)	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002038550

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)

Uncertain significance
(Jun 16, 2021)

unknown

clinical testing

Citation Link,

SCV002556361

Wendy Chung Laboratory, Columbia University Medical Center

no assertion criteria provided

Uncertain significance
(Aug 2, 2022)

biparental

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV002038550.1

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

Description

The NRROS c.1222A>C (p.Asn408His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. Based on the limited evidence, the p.Asn408His variant is classified as a variant of uncertain significance for early-onset seizures with neurodegeneration and brain calcification.

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

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002556361.1

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

Last Updated: Dec 24, 2023

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