ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.803C>T (p.Ala268Val)

dbSNP: rs1241943196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928746 SCV002204965 uncertain significance Long QT syndrome 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 268 of the KCNH2 protein (p.Ala268Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1423311). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004044198 SCV005033232 uncertain significance Cardiovascular phenotype 2024-03-07 criteria provided, single submitter clinical testing The p.A268V variant (also known as c.803C>T), located in coding exon 4 of the KCNH2 gene, results from a C to T substitution at nucleotide position 803. The alanine at codon 268 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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