ClinVar Miner

Submissions for variant NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) (rs752941297)

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Total submissions: 3
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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 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 RCV000806530 SCV000946534 pathogenic Netherton syndrome 2018-08-28 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. This variant is present in population databases (rs752941297, ExAC 0.003%). This variant has been observed in many individuals and families affected with Netherton syndrome and has been described as a Greek founder mutation (PMID:22089833, 22377713). ClinVar contains an entry for this variant (Variation ID: 374066). Experimental studies have shown that this silent change, c.891C>T, disrupts an exonic splicing regulatory element and  causes inappropriate skipping of exon 11  (PMID: 22089833, 22377713, 25665175). For these reasons, this variant has been classified as Pathogenic.

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