Submissions for variant NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)

gnomAD frequency: 0.00163  dbSNP: rs45568335

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443723	SCV000521558	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20849526)
Fulgent Genetics, Fulgent Genetics	RCV000763942	SCV000894888	uncertain significance	Methylmalonic acidemia with homocystinuria, type cblJ	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000763942	SCV001113750	likely benign	Methylmalonic acidemia with homocystinuria, type cblJ	2024-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000763942	SCV001139484	likely benign	Methylmalonic acidemia with homocystinuria, type cblJ	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443723	SCV001371596	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ABCD4: PP3, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000443723	SCV004227328	uncertain significance	not provided	2023-01-06	criteria provided, single submitter	clinical testing	BS1, PP3
PreventionGenetics, part of Exact Sciences	RCV004758013	SCV005344407	likely benign	ABCD4-related disorder	2024-07-09	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).