ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs749315686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049768 SCV001213838 pathogenic Neuronal ceroid lipofuscinosis 7 2023-12-10 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
Natera, Inc. RCV001271146 SCV001452001 pathogenic Late-infantile neuronal ceroid lipofuscinosis 2020-09-16 no assertion criteria provided clinical testing

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