ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1882C>G (p.Pro628Ala) (rs753788508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228110 SCV000283977 uncertain significance Long QT syndrome 2017-06-29 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 968 of the KCNH2 protein (p.Pro968Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs753788508, ExAC 0.02%) but has not been reported in the literature in individuals with a KCNH2-related disease. ClinVar contains an entry for this variant (Variation ID: 237298). This variant identified in the KCNH2 gene is located in the cytoplasmic C-terminal region of the resulting protein (PMID: 19841300, 25348405). For more information about the location of this variant, please visit www.invitae.com/KCNH2-topology. It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics Inc RCV000712076 SCV000842491 uncertain significance not provided 2017-11-24 criteria provided, single submitter clinical testing

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