ClinVar Miner

Submissions for variant NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)

dbSNP: rs1565369746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV000681605 SCV000804240 pathogenic Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis 2018-07-01 criteria provided, single submitter research this is a pathogenic variant associated with a novel neurodevelopmental disorder
Genomic Medicine Lab, University of California San Francisco RCV000767374 SCV001573025 likely pathogenic Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 2020-04-23 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV000767374 SCV003836680 pathogenic Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 2022-05-16 criteria provided, single submitter clinical testing
OMIM RCV000767374 SCV000897945 pathogenic Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 2019-05-30 no assertion criteria provided literature only

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