Submissions for variant NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)

gnomAD frequency: 0.00306  dbSNP: rs187043152

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455350	SCV000540696	uncertain significance	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in a sporadic case with TOF (De Luca 2011), one homozygous case with 46,XY gonadal dysgenesis (Bashamboo 2014), one case with congenital diaphragmatic hernia and was inherited from the mother (Longoni 2015). ExAC freq 0.5%.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000144723	SCV000557286	benign	46,XY sex reversal 9	2024-01-18	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514546	SCV000609541	uncertain significance	not provided	2017-04-27	criteria provided, single submitter	clinical testing
Mendelics	RCV000144723	SCV001137695	likely benign	46,XY sex reversal 9	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000455350	SCV002071444	benign	not specified	2021-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514546	SCV004158339	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ZFPM2: BS1, BS2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000144723	SCV004809414	likely benign	46,XY sex reversal 9	2024-04-04	criteria provided, single submitter	clinical testing
OMIM	RCV000032716	SCV000056480	pathogenic	Tetralogy of Fallot	2014-07-15	no assertion criteria provided	literature only
OMIM	RCV000144723	SCV000190930	pathogenic	46,XY sex reversal 9	2014-07-15	no assertion criteria provided	literature only
Reproductive Development, Murdoch Childrens Research Institute	RCV001007702	SCV001146899	benign	46,XY sex reversal 3	2019-08-26	no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV003974865	SCV004793600	likely benign	ZFPM2-related disorder	2019-12-04	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).