ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)

dbSNP: rs1578794927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987474 SCV001136771 pathogenic Neuronal ceroid lipofuscinosis 7 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497278 SCV002809247 likely pathogenic Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2021-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000987474 SCV003272173 pathogenic Neuronal ceroid lipofuscinosis 7 2022-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro375Leufs*39) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 802088). For these reasons, this variant has been classified as Pathogenic.

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