NM_013245.3(VPS4A):c.83C>T (p.Ala28Val) AND Syndromic congenital hemolytic and dyserythropoietic anemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2020
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:: RCV001290972.1

Allele description [Variation Report for NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)]

NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)

Genes:

LOC126862382:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:69349279-69350478 [Gene]
VPS4A:vacuolar protein sorting 4 homolog A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)

HGVS:

NC_000016.10:g.69316069C>T
NM_013245.3:c.83C>TMANE SELECT
NP_037377.1:p.Ala28Val
NC_000016.9:g.69349972C>T
NM_013245.2:c.83C>T

Protein change:

A28V; ALA28VAL

Links:

OMIM: 609982.0005; dbSNP: rs1965431981

Molecular consequence:

NM_013245.3:c.83C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Syndromic congenital hemolytic and dyserythropoietic anemia
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001479319	RBC Disorders, Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 1, 2020)	inherited	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 33186543

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001479319

RBC Disorders, Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 1, 2020)

inherited

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	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

VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.

Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA.

Am J Hum Genet. 2020 Dec 3;107(6):1149-1156. doi: 10.1016/j.ajhg.2020.10.013. Epub 2020 Nov 12.

PubMed [citation]

PMID:: 33186543
PMCID:: PMC7820805

Details of each submission

From RBC Disorders, Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, SCV001479319.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 27, 2026

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