ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1943G>A (p.Gly648Asp) (rs794728486)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182037 SCV000234340 pathogenic not provided 2011-09-09 criteria provided, single submitter clinical testing The Gly648Asp variant in the KCNH2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Gly648Asp results in a non-conservative amino acid substitution of a non-polar Glycine with a negatively charged Aspartic acid at a position that is highly conserved throughout evolution. In silico analysis predicts Gly648Asp is damaging to the protein structure/function. In addition, mutations in this codon (Gly648Ser) and in nearby codons (Met645Ile, Met645Leu, Met645Val, Ser649Pro) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. In summary, while the Gly648Asp variant is a good candidate for a disease-causing mutation, we cannot unequivocally determine the clinical significance of this variant with the clinical and molecular information available at this time. The variant is found in LQT panel(s).

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