ClinVar Miner

Submissions for variant NC_000004.11:g.(?_128870939)_(128886288_?)del

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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 RCV004580764 SCV005064788 pathogenic Neuronal ceroid lipofuscinosis 7 2023-03-26 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with neuronal ceroid lipofuscinosis type 7 (PMID: 35917699). This variant is a gross deletion of the genomic region encompassing exon(s) 2-4 of the MFSD8 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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). For these reasons, this variant has been classified as Pathogenic.

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