Submissions for variant NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)

gnomAD frequency: 0.00117  dbSNP: rs200440641

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469334	SCV000554100	benign	Dyskeratosis congenita	2024-01-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000500603	SCV000594248	likely benign	not specified	2021-04-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000469334	SCV001282572	uncertain significance	Dyskeratosis congenita	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001551204	SCV001771664	likely benign	not provided	2019-03-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807256	SCV002055637	likely benign	Cerebroretinal microangiopathy with calcifications and cysts 1	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000469334	SCV002531264	likely benign	Dyskeratosis congenita	2020-11-09	criteria provided, single submitter	curation
Revvity Omics, Revvity	RCV001807256	SCV003828711	uncertain significance	Cerebroretinal microangiopathy with calcifications and cysts 1	2019-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003418207	SCV004113775	uncertain significance	CTC1-related disorder	2023-04-20	criteria provided, single submitter	clinical testing	The CTC1 c.1720C>T variant is predicted to result in the amino acid substitution p.Pro574Ser. This variant was reported in an individual with retinal / optic nerve disease (Diñeiro et al 2020. PubMed ID: 32483926, Table S12). This variant is reported in 0.35% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-8137871-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.