NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) AND Cerebroretinal microangiopathy with calcifications and cysts 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2012
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:: RCV000033248.8

Allele description [Variation Report for NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)]

NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)

Gene:

CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)

HGVS:

NC_000017.11:g.8229948CAA[1]
NG_032148.2:g.23145GTT[1]
NM_025099.6:c.2951GTT[1]MANE SELECT
NP_079375.3:p.Cys985del
LRG_1124t1:c.2951GTT[1]
LRG_1124:g.23145GTT[1]
LRG_1124p1:p.Cys985del
NC_000017.10:g.8133264_8133266del
NC_000017.10:g.8133266CAA[1]
NM_025099.5:c.2954_2956delGTT
NR_046431.2:n.2866GTT[1]

Protein change:

C985del

Links:

OMIM: 613129.0012; dbSNP: rs199473679

NCBI 1000 Genomes Browser:

rs199473679

Molecular consequence:

NM_025099.6:c.2951GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_046431.2:n.2866GTT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1)
Identifiers:: MONDO: MONDO:0024564; MedGen: C4552029; Orphanet: 313838; OMIM: 612199

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057104	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 22267198, 22532422 Crow, Y. J., McMenamin, J., Haenggeli, C. A., Hadley, D. M., Tirupathi, S., Treacy, E. P., Zuberi, S. M., Browne, B. H., Tolmie, J. L., Stephenson, J. B. P. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 35: 10-19, 2004.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057104

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2012)

germline

literature only

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

Crow, Y. J., McMenamin, J., Haenggeli, C. A., Hadley, D. M., Tirupathi, S., Treacy, E. P., Zuberi, S. M., Browne, B. H., Tolmie, J. L., Stephenson, J. B. P. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 35: 10-19, 2004.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, et al.

Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.

PubMed [citation]

PMID:: 22267198

CTC1 Mutations in a patient with dyskeratosis congenita.

Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S.

Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24.

PubMed [citation]

PMID:: 22532422
PMCID:: PMC3374040

Details of each submission

From OMIM, SCV000057104.5

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

Description

In a 20-year-old man with cerebroretinal microangiopathy with calcifications and cysts (CRMCC1; 612199), Anderson et al. (2012) identified compound heterozygosity for 2 mutations in the CTC1 gene: an in-frame 3-bp deletion (2954_2956delGTT) in exon 18, resulting in a deletion of cys985, and an 859C-T transition in exon 6, resulting in an arg287-to-ter (R287X; 613129.0013) substitution. The patient, who had previously been reported by Crow et al. (2004) as having Coats plus syndrome, had intrauterine growth retardation, intracranial calcifications, leukoencephalopathy, retinal changes, dystrophic nails, and shortened telomere lengths.

For discussion of the 3-bp deletion in the CTC1 gene that was found in compound heterozygous state in a patient with CRMCC who had classic features of dyskeratosis congenita (see, e.g., 127550) by Keller et al. (2012), see 613129.0001.

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

Last Updated: Feb 20, 2024

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