ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.932dup (p.Asn311fs)

dbSNP: rs1566729319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697275 SCV000825875 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-05-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNH5 cause disease. This variant has not been reported in the literature in individuals with KCNH5-related disease. This sequence change creates a premature translational stop signal (p.Asn311Lysfs*4) in the KCNH5 gene. It is expected to result in an absent or disrupted protein product.

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