Submissions for variant NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)

gnomAD frequency: 0.00166  dbSNP: rs77934668

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973017	SCV001120750	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000973017	SCV001986183	uncertain significance	not provided	2020-10-23	criteria provided, single submitter	clinical testing	Reported in individuals with ACTH-independent macronodular adrenocortical hyperplasia or testicular germ cell tumor, but familial segregation information was not provided and the variant was also identified in control groups (Libe et al., 2008; Pathak et al., 2015); Published functional studies demonstrate a damaging effect: decreased enzymatic activity and cAMP hydrolysis rates (Azevedo et al., 2014); This variant is associated with the following publications: (PMID: 22996146, 19549888, 23771924, 18559625, 20881257, 26459559)
CeGaT Center for Human Genetics Tuebingen	RCV000973017	SCV004150154	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PDE11A: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003906054	SCV004720262	likely benign	PDE11A-related disorder	2020-11-07	no assertion criteria provided	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).