NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 25, 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:: RCV003721104.4

Allele description [Variation Report for NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)]

NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)

Gene:

CCDC88C:coiled-coil and HOOK domain protein 88C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

Preferred name:

NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)

HGVS:

NC_000014.9:g.91314114G>A
NG_033118.2:g.108731C>T
NM_001080414.4:c.1702C>TMANE SELECT
NP_001073883.2:p.Arg568Ter
NC_000014.8:g.91780458G>A
NR_189158.1:n.1832C>T
NR_189159.1:n.1832C>T

Protein change:

R568*

Links:

dbSNP: rs777488098

Molecular consequence:

NM_001080414.4:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004502123	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 25, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23042809, 29225145, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004502123

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 25, 2024)

germline

clinical testing

PubMed (3)
[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

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S.

J Med Genet. 2012 Nov;49(11):708-12. doi: 10.1136/jmedgenet-2012-101190. Epub 2012 Oct 5.

PubMed [citation]

PMID:: 23042809

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Wallis M, Baumer A, Smaili W, Jaouad IC, Sefiani A, Jacobson E, Bowyer L, Mowat D, Rauch A.

Eur J Med Genet. 2018 Apr;61(4):189-196. doi: 10.1016/j.ejmg.2017.12.002. Epub 2017 Dec 7.

PubMed [citation]

PMID:: 29225145

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004502123.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg568*) in the CCDC88C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC88C are known to be pathogenic (PMID: 23042809, 29225145). This variant is present in population databases (rs777488098, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hydrocephalus (PMID: 29225145). 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: Oct 10, 2026

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