ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter)

dbSNP: rs786205842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003060424 SCV003447882 uncertain significance Long QT syndrome 2022-04-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln84*) in the SNTA1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SNTA1 cause disease.

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