ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)

dbSNP: rs118203977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001058 SCV001406037 pathogenic Neuronal ceroid lipofuscinosis 7 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr298*) 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 (rs118203977, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 17564970). ClinVar contains an entry for this variant (Variation ID: 1003). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781154 SCV002024351 pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031377 SCV005662940 pathogenic Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2024-03-06 criteria provided, single submitter clinical testing
OMIM RCV000001058 SCV000021208 pathogenic Neuronal ceroid lipofuscinosis 7 2007-07-01 no assertion criteria provided literature only

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