ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1715dup (p.Thr573fs) (rs796052684)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188004 SCV000241607 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing The c.1715dupT variant in the KCNQ3 gene causes a frameshift starting with codon Threonine 573, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Thr573HisfsX30. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, to our knowledge, all reported KCNQ3 mutations have been missense substitutions. Therefore, based on the currently available information, c.1715dupT is a strong candidate for a pathogenic variant, although the possibility that it is not benign variant cannot be excluded.

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