Submissions for variant NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)

gnomAD frequency: 0.00048  dbSNP: rs201891953

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194118	SCV000247127	uncertain significance	not specified	2015-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV000545908	SCV000631336	likely benign	Dyskeratosis congenita	2024-01-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764154	SCV000895151	uncertain significance	Cerebroretinal microangiopathy with calcifications and cysts 1	2021-09-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000545908	SCV001287773	uncertain significance	Dyskeratosis congenita	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV001508436	SCV001714584	uncertain significance	not provided	2020-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001508436	SCV001813756	uncertain significance	not provided	2022-03-08	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV000764154	SCV002055597	uncertain significance	Cerebroretinal microangiopathy with calcifications and cysts 1	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517927	SCV003528453	likely benign	Inborn genetic diseases	2022-02-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003967495	SCV004783515	likely benign	CTC1-related condition	2023-05-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).