Submissions for variant NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)

gnomAD frequency: 0.00001  dbSNP: rs749315686

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001049768	SCV001213838	pathogenic	Neuronal ceroid lipofuscinosis 7	2024-12-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg35*) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). This variant is present in population databases (rs749315686, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of neuronal ceroid lipofuscinosis and macular dystrophy (PMID: 19177532, 28586915). ClinVar contains an entry for this variant (Variation ID: 846459). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002497393	SCV002809893	pathogenic	Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement	2021-12-07	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV001049768	SCV004801220	pathogenic	Neuronal ceroid lipofuscinosis 7	2024-03-14	criteria provided, single submitter	research
De Paul lab, Instituto de Investigacion En Ciencias de La Salud , Consejo Nacional de Investigaciones Cientificas y Tecnicas	RCV001049768	SCV005375338	pathogenic	Neuronal ceroid lipofuscinosis 7	2024-08-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271146	SCV001452001	pathogenic	Late-infantile neuronal ceroid lipofuscinosis	2020-09-16	no assertion criteria provided	clinical testing