Submissions for variant NM_015450.3(POT1):c.751A>G (p.Met251Val)

gnomAD frequency: 0.00171  dbSNP: rs148397357

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544194	SCV000655206	benign	Tumor predisposition syndrome 3	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568291	SCV000674392	likely benign	Hereditary cancer-predisposing syndrome	2018-05-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV000604028	SCV000726726	likely benign	not specified	2018-01-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000604028	SCV002069019	benign	not specified	2021-05-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568291	SCV002527173	likely benign	Hereditary cancer-predisposing syndrome	2021-01-18	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000604028	SCV002773919	benign	not specified	2021-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003424146	SCV004160997	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	POT1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003952864	SCV004778230	benign	POT1-related disorder	2020-08-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).