ClinVar Miner

Submissions for variant NC_000003.11:g.(?_176743266)_(176782785_?)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 RCV000815265 SCV000955714 uncertain significance Pierpont syndrome 2019-11-20 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the TBL1XR1 gene. 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. Similar whole gene copy number gains have been observed to segregate with syndromic intellectual disability in a family and have also been observed in an unrelated individual affected with syndromic intellectual disability (PMID: 28574232). Experimental studies are not available for this variant, and the functional significance of the extra copy of this gene 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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