NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter) AND Spinocerebellar ataxia type 40

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004765940.2

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)

Name:: Spinocerebellar ataxia type 40
Identifiers:: MONDO: MONDO:0014475; MedGen: C4518336; Orphanet: 423275; OMIM: 616053

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
SCV005091503	Solve-RD Consortium	no assertion criteria provided	Likely pathogenic (Jun 1, 2022)	inherited	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005091503

Solve-RD Consortium

no assertion criteria provided

Likely pathogenic
(Jun 1, 2022)

inherited

provider interpretation

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	inherited	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Citations

PubMed

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, et al.

Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Erratum in: Nat Med. 2025 Aug;31(8):2819-2820. doi: 10.1038/s41591-025-03754-z..

PubMed [citation]

PMID:: 39825153
PMCID:: PMC11835725

Details of each submission

From Solve-RD Consortium, SCV005091503.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	PubMed (1)

Description

Variant confirmed as disease-causing by referring clinical team

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 10, 2026

ClinVar

Relating variation to medicine