NM_001367561.1(DOCK7):c.1290del (p.Ser432fs) AND Developmental and epileptic encephalopathy, 23

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV003746746.2

Allele description [Variation Report for NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)]

NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)

Gene:

DOCK7:dedicator of cytokinesis 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)

HGVS:

NC_000001.11:g.62625397del
NG_033073.2:g.67975del
NM_001271999.2:c.1290del
NM_001272000.2:c.1290del
NM_001272001.2:c.1290del
NM_001272002.2:c.1290del
NM_001330614.2:c.1290del
NM_001367561.1:c.1290delMANE SELECT
NM_033407.4:c.1290del
NP_001258928.1:p.Ser432fs
NP_001258929.1:p.Ser432fs
NP_001258930.1:p.Ser432fs
NP_001258931.1:p.Ser432fs
NP_001317543.1:p.Ser432fs
NP_001354490.1:p.Ser432fs
NP_212132.2:p.Ser432fs
NC_000001.10:g.63091065del
NC_000001.10:g.63091068del

Protein change:

S432fs

Molecular consequence:

NM_001271999.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001272000.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001272001.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001272002.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330614.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367561.1:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033407.4:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 23 (DEE23)
Synonyms:: Epileptic encephalopathy, early infantile, 23
Identifiers:: MONDO: MONDO:0014371; MedGen: C4014492; Orphanet: 411986; OMIM: 615859

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004380444	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 3, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24814191, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004380444

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 3, 2024)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL.

Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.

PubMed [citation]

PMID:: 24814191
PMCID:: PMC4121477

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004380444.1

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

Description

This sequence change creates a premature translational stop signal (p.Ser432Leufs*28) in the DOCK7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine