ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu)

gnomAD frequency: 0.00001  dbSNP: rs1428055248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768323 SCV000898992 uncertain significance Netherton syndrome 2021-03-30 criteria provided, single submitter clinical testing SPINK5 NM_006846.3 exon 14 p.Lys428Glu (c.1282A>G): This variant has not been reported in the literature but is present in 1/33494 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/5-147480979-A-G). This variant Glutamic acid (Glu) is present in several species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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