Submissions for variant NM_001371596.2(MFSD8):c.435A>C (p.Gly145=)

gnomAD frequency: 0.00004  dbSNP: rs781299975

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423565	SCV000518095	likely benign	not specified	2018-01-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000549828	SCV000639422	likely benign	Neuronal ceroid lipofuscinosis 7	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328937	SCV002627947	likely benign	Inborn genetic diseases	2018-09-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003902503	SCV004727659	likely benign	MFSD8-related disorder	2023-10-24	criteria provided, single submitter	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).