Submissions for variant NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter)

dbSNP: rs1209722075

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001255132	SCV002237178	pathogenic	Neuronal ceroid lipofuscinosis 7	2022-08-21	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 977458). This premature translational stop signal has been observed in individual(s) with clinical features of MFSD8-related conditions (PMID: 27848944). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln206*) 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).
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	RCV001255132	SCV001430994	uncertain significance	Neuronal ceroid lipofuscinosis 7		no assertion criteria provided	clinical testing
Dr.Nikuei Genetic Center	RCV001255132	SCV005068179	pathogenic	Neuronal ceroid lipofuscinosis 7		no assertion criteria provided	clinical testing