NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) AND Cerebroretinal microangiopathy with calcifications and cysts 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 15, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001172451.4

Allele description [Variation Report for NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)]

NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)

HGVS:

NC_000017.11:g.8248024G>A
NG_032148.2:g.5072C>T
NM_025099.6:c.13C>TMANE SELECT
NP_079375.3:p.Arg5Trp
LRG_1124t1:c.13C>T
LRG_1124:g.5072C>T
LRG_1124p1:p.Arg5Trp
NC_000017.10:g.8151342G>A
NM_025099.5:c.13C>T
NR_046431.2:n.33C>T

Protein change:

R5W

Links:

dbSNP: rs201280372

NCBI 1000 Genomes Browser:

rs201280372

Molecular consequence:

NM_025099.6:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_046431.2:n.33C>T - 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
SCV001250898	Godley laboratory, The University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002054488	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 15, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001250898

Godley laboratory, The University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002054488

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 15, 2021)

germline

clinical testing

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	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	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

Details of each submission

From Godley laboratory, The University of Chicago, SCV001250898.1

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

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

From Genome-Nilou Lab, SCV002054488.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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