NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) AND Neurodevelopmental delay

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002274004.3

Allele description [Variation Report for NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)]

NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)

Gene:

UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)

HGVS:

NC_000002.12:g.209819105G>C
NG_051361.1:g.52181G>C
NM_001371986.1:c.1806G>CMANE SELECT
NM_032504.2:c.1806G>C
NM_182587.4:c.1806G>C
NP_001358915.1:p.Gln602His
NP_115893.1:p.Gln602His
NP_115893.1:p.Gln602His
NP_872393.3:p.Gln602His
NC_000002.11:g.210683829G>C
NM_032504.1:c.1806G>C
NM_032504.2:c.1806G>C

Protein change:

Q602H

Links:

dbSNP: rs200473652

NCBI 1000 Genomes Browser:

rs200473652

Molecular consequence:

NM_001371986.1:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032504.2:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_182587.4:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental delay
Identifiers:: MedGen: C4022738; Human Phenotype Ontology: HP:0012758

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002559059	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	unknown	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

SCV002559059

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV002559059.1

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

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

Last Updated: May 16, 2025

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