NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr) AND Developmental and epileptic encephalopathy 93

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 2018
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:: RCV000708561.3

Allele description [Variation Report for NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)]

NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)

Gene:

ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.31

Genomic location:

Preferred name:

NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)

HGVS:

NC_000003.12:g.113795101C>A
NG_047012.1:g.53083C>A
NM_001690.4:c.1123C>AMANE SELECT
NP_001681.2:p.Pro375Thr
NC_000003.11:g.113513948C>A
NM_001690.2:c.1123C>A
p.P375T

Protein change:

P375T

Links:

dbSNP: rs1559759089

NCBI 1000 Genomes Browser:

rs1559759089

Molecular consequence:

NM_001690.4:c.1123C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Developmental and epileptic encephalopathy 93
Synonyms:: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
Identifiers:: MONDO: MONDO:0020632; MedGen: C4693934; OMIM: 618012

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000837678	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 20, 2018)	de novo	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

SCV000837678

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 20, 2018)

de novo

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
White	de novo	yes	1	1	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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000837678.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	1	not provided	not provided	clinical testing (GTR000553916.1)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000553916.1)	1	not provided	1	not provided

Last Updated: Apr 13, 2025

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