ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.1431-12G>A

dbSNP: rs368134354
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414252 SCV000490828 pathogenic not provided 2023-03-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26762237, 21255986, 26229701, 19683336, 22089833, 15304086, 29444371, 28289593, 31589614, 32441320)
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414954 SCV000492793 likely pathogenic Erythroderma; Increased circulating IgE level 2015-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000414252 SCV001249574 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000766268 SCV001367773 likely pathogenic Netherton syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Invitae RCV003595955 SCV001590575 pathogenic Ichthyosis linearis circumflexa 2023-10-03 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the SPINK5 gene. It does not directly change the encoded amino acid sequence of the SPINK5 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individuals with Netherton syndrome (PMID: 15304086, 21255986, 26229701, 28289593). It has also been observed to segregate with disease in related individuals. This variant is also known as 1432-13 G>A. ClinVar contains an entry for this variant (Variation ID: 372516). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SPINK5 function (PMID: 15304086, 21255986). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000766268 SCV002797269 pathogenic Netherton syndrome 2022-03-29 criteria provided, single submitter clinical testing
OMIM RCV000766268 SCV000897725 pathogenic Netherton syndrome 2019-04-08 no assertion criteria provided literature only

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