ClinVar Miner

Submissions for variant NC_000011.9:g.(?_111171709)_(112104278_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111003 SCV003792129 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2022-10-17 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the PTS gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. 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 affected with PTS-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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111004 SCV003794543 uncertain significance Pyruvate dehydrogenase E2 deficiency 2022-10-17 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with DLAT-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the DLAT gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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