Submissions for variant NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)

gnomAD frequency: 0.00700  dbSNP: rs117706710

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152785	SCV000202173	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514336	SCV000609924	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106152	SCV001263191	uncertain significance	Erythrocyte AMP deaminase deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences	RCV003927476	SCV004744819	benign	AMPD3-related disorder	2020-07-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).