NM_139058.3(ARX):c.260G>C (p.Arg87Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 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:: RCV002492677.1

Allele description [Variation Report for NM_139058.3(ARX):c.260G>C (p.Arg87Pro)]

NM_139058.3(ARX):c.260G>C (p.Arg87Pro)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.260G>C (p.Arg87Pro)

HGVS:

NC_000023.11:g.25013735C>G
NG_008281.1:g.7214G>C
NG_052655.1:g.306C>G
NM_139058.3:c.260G>CMANE SELECT
NP_620689.1:p.Arg87Pro
NC_000023.10:g.25031852C>G
NM_139058.2:c.260G>C

Protein change:

R87P

Links:

dbSNP: rs786203995

NCBI 1000 Genomes Browser:

rs786203995

Molecular consequence:

NM_139058.3:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 1 (DEE1)
Synonyms:: INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350

Name:: Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
Synonyms:: MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419

Name:: Corpus callosum agenesis-abnormal genitalia syndrome
Synonyms:: Proud Levine Carpenter syndrome; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; ACC with abnormal genitalia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010224; MedGen: C0796124; Orphanet: 2508; OMIM: 300004

Name:: X-linked lissencephaly with abnormal genitalia
Synonyms:: Lissencephaly 2, X-linked
Identifiers:: MONDO: MONDO:0010268; MedGen: C1846171; Orphanet: 452; OMIM: 300215

Name:: Partington syndrome (PRTS)
Synonyms:: MENTAL RETARDATION, X-LINKED 36; Partington X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010654; MedGen: C0796250; Orphanet: 94083; OMIM: 309510

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002779094	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 16, 2021)	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

SCV002779094

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 16, 2021)

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	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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002779094.1

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

Last Updated: Oct 8, 2024

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