ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)

dbSNP: rs558274487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188167 SCV000241774 pathogenic not provided 2014-02-13 criteria provided, single submitter clinical testing p.Trp200Stop (TGG>TAG): c.599 G>A in exon 7 of the MFSD8 gene (NM_152778.2). The Trp200Stop mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this mutation has not been reported previously to our knowledge, Trp200Stop is expected to be a disease-causing mutation. The variant is found in CHILD-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002516999 SCV003473136 pathogenic Neuronal ceroid lipofuscinosis 7 2022-03-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 206149). This premature translational stop signal has been observed in individual(s) with MFSD8-realted conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp200*) 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). 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.

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