Submissions for variant NM_000036.3(AMPD1):c.334G>A (p.Val112Met)

gnomAD frequency: 0.00162  dbSNP: rs61741025

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178025	SCV000229998	benign	not specified	2016-03-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513971	SCV000610178	likely benign	not provided	2017-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054105	SCV002442900	likely benign	Muscle AMP deaminase deficiency	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000513971	SCV003919196	uncertain significance	not provided	2022-10-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics	RCV000513971	SCV005259309	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003947513	SCV004756821	likely benign	AMPD1-related disorder	2020-05-20	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).