NM_145861.4(EDARADD):c.358G>C (p.Asp120His) AND multiple conditions

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 27, 2026
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV005010113.2

Allele description [Variation Report for NM_145861.4(EDARADD):c.358G>C (p.Asp120His)]

NM_145861.4(EDARADD):c.358G>C (p.Asp120His)

Gene:

EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_145861.4(EDARADD):c.358G>C (p.Asp120His)

HGVS:

NC_000001.11:g.236482359G>C
NG_011566.1:g.92980G>C
NM_001422628.1:c.292G>C
NM_080738.5:c.328G>C
NM_145861.4:c.358G>CMANE SELECT
NP_001409557.1:p.Asp98His
NP_542776.1:p.Asp110His
NP_665860.2:p.Asp120His
NC_000001.10:g.236645659G>C

Protein change:

D110H

Molecular consequence:

NM_001422628.1:c.292G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080738.5:c.328G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145861.4:c.358G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Identifiers:: MONDO: MONDO:0013982; MedGen: C3541517; Orphanet: 1810; Orphanet: 238468; OMIM: 614940

Name:: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Identifiers:: MONDO: MONDO:0013983; MedGen: C3539920; Orphanet: 238468; Orphanet: 248; OMIM: 614941

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005639608	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 7, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007482223	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 27, 2026)	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

SCV005639608

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 7, 2024)

germline

clinical testing

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

SCV007482223

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 27, 2026)

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	unknown	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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV005639608.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV007482223.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 120 of the EDARADD protein (p.Asp120His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ectodermal dysplasia (internal data). ClinVar contains an entry for this variant (Variation ID: 3581599). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 1, 2026

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