Submissions for variant NM_000077.5(CDKN2A):c.318G>A (p.Val106=)

gnomAD frequency: 0.00026  dbSNP: rs199888003

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000590444	SCV000210949	uncertain significance	not provided	2023-10-30	criteria provided, single submitter	clinical testing	Observed in several individuals with melanoma, pancreatic cancer, or other cancers (PMID: 16234564, 17255954, 17218939, 21150883, 25787093, 26225579, 25479140, 26104880, 25980754, 26681309, 28726808, 34326862); In silico analysis supports a deleterious effect on protein structure/function; Reported using an alternate transcript of the gene; Also known as p.Ala162Thr; This variant is associated with the following publications: (PMID: 25064638, 25980754, 30709382, 30039340, 16234564, 21150883, 26104880, 17218939, 12538475, 25787093, 26225579, 17255954, 28726808, 29415044, 27621404, 26681309, 19690981, 25780468, 27882345, 25479140, 16896043, 29641532, 11687599, 8710906, 16818274, 12532425, 27756164, 37322831, 28765326, 34326862, 27960642)
Ambry Genetics	RCV000160416	SCV000214026	uncertain significance	Hereditary cancer-predisposing syndrome	2014-06-10	criteria provided, single submitter	clinical testing	Insufficient or inconclusive evidence
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212401	SCV000695342	likely benign	not specified	2020-09-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000590444	SCV000805824	uncertain significance	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000212401	SCV000888053	benign	not specified	2021-06-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160416	SCV000902687	likely benign	Hereditary cancer-predisposing syndrome	2016-05-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000988150	SCV001137762	benign	Melanoma-pancreatic cancer syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001050185	SCV001214281	likely benign	Familial melanoma	2022-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000590444	SCV002498020	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CDKN2A: BP4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212401	SCV002550353	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	RCV002467577	SCV002764253	uncertain significance	Maffucci syndrome		criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000590444	SCV001742045	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000590444	SCV001807708	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000590444	SCV001966469	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000590444	SCV002037434	likely benign	not provided		no assertion criteria provided	clinical testing