ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.891C>T (p.Cys297=)

gnomAD frequency: 0.00004  dbSNP: rs752941297
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415446 SCV000492792 likely pathogenic Erythroderma; Increased circulating IgE level 2015-07-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788305 SCV000927364 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV003595957 SCV000946534 pathogenic Ichthyosis linearis circumflexa 2024-01-13 criteria provided, single submitter clinical testing This sequence change affects codon 297 of the SPINK5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SPINK5 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs752941297, gnomAD 0.006%). This variant has been observed in individuals with Netherton syndrome (PMID: 22089833, 22377713). It is commonly reported in individuals of Greek ancestry (PMID: 22089833). ClinVar contains an entry for this variant (Variation ID: 374066). Studies have shown that this variant results in skipping of exon 11 and introduces a premature termination codon (PMID: 22089833, 22377713, 25665175). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000806530 SCV001367772 likely pathogenic Netherton syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000788305 SCV001762255 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000806530 SCV002021945 pathogenic Netherton syndrome 2020-06-23 criteria provided, single submitter clinical testing

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