ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp)

gnomAD frequency: 0.00001  dbSNP: rs1462481036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319489 SCV001510233 uncertain significance Long QT syndrome 2020-02-18 criteria provided, single submitter clinical testing 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces valine with aspartic acid at codon 301 of the KCNJ5 protein (p.Val301Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNJ5-related disease.
Ambry Genetics RCV002375418 SCV002688037 uncertain significance Cardiovascular phenotype 2019-11-19 criteria provided, single submitter clinical testing The p.V301D variant (also known as c.902T>A), located in coding exon 1 of the KCNJ5 gene, results from a T to A substitution at nucleotide position 902. The valine at codon 301 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040174 SCV005675904 uncertain significance Long QT syndrome 13; Familial hyperaldosteronism type III 2024-05-21 criteria provided, single submitter clinical testing

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