ClinVar Miner

Submissions for variant NC_000014.9:g.(?_65957717)_(66508591_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033489 SCV001196796 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2019-12-30 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 1 of the GPHN gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the GPHN gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with GPHN-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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