ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.878del (p.Pro292_Leu293insTer)

dbSNP: rs2148873794
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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 RCV001385940 SCV001585960 pathogenic Neuronal ceroid lipofuscinosis 7 2020-07-07 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu293*) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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