ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1128+6C>T

gnomAD frequency: 0.00002  dbSNP: rs746127862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040819 SCV001204409 uncertain significance Long QT syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the KCNH2 gene. It does not directly change the encoded amino acid sequence of the KCNH2 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with clinical features of long QT syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 839128). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001842589 SCV001355010 likely benign Cardiac arrhythmia 2020-03-05 criteria provided, single submitter clinical testing

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