Submissions for variant NM_015450.3(POT1):c.813C>T (p.Tyr271=)

gnomAD frequency: 0.00011  dbSNP: rs61756407

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557544	SCV000655210	likely benign	Tumor predisposition syndrome 3	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563209	SCV000674397	likely benign	Hereditary cancer-predisposing syndrome	2017-04-17	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.
GeneDx	RCV001697382	SCV000727804	likely benign	not provided	2020-05-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563209	SCV002527177	likely benign	Hereditary cancer-predisposing syndrome	2022-02-04	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001697382	SCV004160996	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	POT1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003945312	SCV004757213	likely benign	POT1-related condition	2021-10-18	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).