ClinVar Miner

Submissions for variant NC_000014.8:g.(?_102898133)_(102968818_?)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 RCV000474378 SCV000563911 uncertain significance Hereditary spastic paraplegia 49 2016-08-30 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 8-20 of the TECPR2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a TECPR2-related disease. In summary, the genomic location of this duplication is unknown and the impact of this variant on TECPR2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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