ClinVar Miner

Submissions for variant NC_000002.11:g.(?_30142853)_(30143531_?)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 RCV000528758 SCV000648589 uncertain significance Neuroblastoma, susceptibility to, 3 2017-03-30 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 1 of the ALK gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a ALK-related disease. Experimental studies and prediction algorithms are not available for this variant, and its functional significance is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ALK protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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