ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.864-1G>A

gnomAD frequency: 0.00002  dbSNP: rs571950296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379020 SCV001576736 likely pathogenic Neuronal ceroid lipofuscinosis 7 2022-07-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the MFSD8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). This variant is present in population databases (rs571950296, gnomAD 0.005%). 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: 1067690). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001379020 SCV002573440 pathogenic Neuronal ceroid lipofuscinosis 7 2018-11-20 criteria provided, single submitter clinical testing
GeneDx RCV003128762 SCV003805901 likely pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001831364 SCV002084783 likely pathogenic Late-infantile neuronal ceroid lipofuscinosis 2020-03-13 no assertion criteria provided clinical testing

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