ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser)

dbSNP: rs2117004283
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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 RCV001940179 SCV002179632 uncertain significance Long QT syndrome 2021-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 251 of the KCNH2 protein (p.Pro251Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This missense change has been observed in individual(s) with Romano Ward syndrome (PMID: 16414944). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002478370 SCV002799602 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2022-02-23 criteria provided, single submitter clinical testing

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