ClinVar Miner

Submissions for variant NC_000010.10:g.(?_73079047)_(73082831_?)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 RCV000708048 SCV000837158 uncertain significance H syndrome 2018-09-10 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 1-2 of the SLC29A3 gene. 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 2 of the SLC29A3 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 SLC29A3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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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