ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.2579del (p.Lys860fs)

dbSNP: rs1362009010
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596622 SCV000963787 pathogenic Ichthyosis linearis circumflexa 2023-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys860Serfs*64) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664791). This premature translational stop signal has been observed in individual(s) with Netherton syndrome (PMID: 11511292, 16628198). This variant is not present in population databases (gnomAD no frequency).

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