ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1158_1167del (p.Trp387fs)

dbSNP: rs2148840216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952244 SCV002187526 pathogenic Neuronal ceroid lipofuscinosis 7 2021-02-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp387Glnfs*24) 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 has not been reported in the literature in individuals with MFSD8-related conditions. For these reasons, this variant has been classified as Pathogenic.

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