ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter)

gnomAD frequency: 0.00004  dbSNP: rs750789505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003597237 SCV002143606 pathogenic Ichthyosis linearis circumflexa 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys754*) in the SPINK5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPINK5 are known to be pathogenic (PMID: 11511292, 11841556). This variant is present in population databases (rs750789505, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with Netherton syndrome (PMID: 12923596, 15656819, 27988933). ClinVar contains an entry for this variant (Variation ID: 1379542). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796674 SCV005418929 pathogenic Netherton syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP4

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