ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)

dbSNP: rs1969582489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano RCV001352675 SCV001433005 pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 2020-08-28 criteria provided, single submitter clinical testing The p. S314P variant in KCNN4 gene has been reported in 7 Italian patients from 2 unrelated families presenting mild hemolytic anemia. In vitro functional studies indicate that the S314P variant result in a gain of function mutation and in increase activation of the Gardos channel. The variant meets criteria to be classified as pathogenic based upon segregation studies, absence from controls, phenotypic and functional evidence

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