ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)

dbSNP: rs2113117124
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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 RCV001366101 SCV001562392 uncertain significance Netherton syndrome 2022-04-16 criteria provided, single submitter clinical testing This variant, c.1218_1220del, results in the deletion of 1 amino acid(s) of the SPINK5 protein (p.Phe407del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPINK5-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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