ClinVar Miner

Submissions for variant NC_000004.11:g.(?_128851818)_(128886308_?)dup

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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 RCV000816639 SCV000957156 uncertain significance Neuronal ceroid lipofuscinosis 7 2018-09-14 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-10 of the MFSD8 gene, which includes the start codon for the MFSD8 protein. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass the non-coding exon 1 and/or additional genes. The 3' boundary is likely confined to intron 10 of the MFSD8 gene. This variant has not been reported in the literature in individuals with a MFSD8-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MFSD8 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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