ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.831dup (p.Val278fs)

dbSNP: rs775699005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803823 SCV000943710 pathogenic Neuronal ceroid lipofuscinosis 7 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val278Cysfs*10) 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 (rs775699005, gnomAD 0.0009%). 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: 648978). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074092 SCV001239661 likely pathogenic Retinal dystrophy 2018-12-28 criteria provided, single submitter clinical testing
GeneDx RCV003228993 SCV003925936 pathogenic not provided 2023-04-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 31964843)

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