ClinVar Miner

Submissions for variant NC_000012.12:g.(?_32633539)_(32640543_?)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 RCV001031402 SCV001194708 uncertain significance Charcot-Marie-Tooth disease type 4 2019-02-15 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 15-17 of the FGD4 gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in an individual with a FGD4-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 genomic location of this variant is unknown and the impact of this duplication on FGD4 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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