ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86755016)_(86756919_?)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 RCV001032000 SCV001195307 uncertain significance Generalized juvenile polyposis/juvenile polyposis coli 2019-12-17 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the promoter region of the BMPR1A 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 1 of the BMPR1A 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 BMPR1A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001308813 SCV001498283 uncertain significance Juvenile polyposis syndrome 2023-07-08 criteria provided, single submitter clinical testing This variant is a copy number gain that occurs in a non-coding region of the BMPR1A gene. It does not change the encoded amino acid sequence of the BMPR1A protein. This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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