ClinVar Miner

Submissions for variant NC_000005.10:g.(?_148086385)_(148116486_?)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 RCV001032686 SCV001195993 uncertain significance Netherton syndrome 2021-08-11 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 5-22 of the SPINK5 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with SPINK5-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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