Submissions for variant NM_001385.3(DPYS):c.1506del (p.Arg503fs)

dbSNP: rs79080341

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000086515	SCV000854953	uncertain significance	not provided	2017-07-31	criteria provided, single submitter	clinical testing
Invitae	RCV000086515	SCV001041382	likely benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000086515	SCV001871141	uncertain significance	not provided	2022-07-29	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation as the last 17 amino acids are lost and replaced with 1 incorrect amino acid, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 27641154, 18075467, 34426522, 27535533)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002251978	SCV002523464	uncertain significance	See cases	2022-10-28	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV003137625	SCV003806743	uncertain significance	Dihydropyrimidinase deficiency	2022-10-29	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1 very strong
Diasio Lab, Mayo Clinic	RCV000086515	SCV000118719	not provided	not provided		no assertion provided	not provided