ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108205690)_(108236241_?)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 RCV000628326 SCV000749222 uncertain significance Ataxia-telangiectasia syndrome 2017-09-25 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 55-63 of the ATM gene. The 5' boundary is located at c.8064 in exon 55. The 3' end of this event is located beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with ATM-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 exact location of this duplication is unknown and 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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