ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.477+5G>A (rs373813381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187964 SCV000241567 uncertain significance not provided 2012-08-28 criteria provided, single submitter clinical testing c.477+5 G>A:IVS2+5 G>A in intron 2 of the KCNQ3 gene (NM_004519.2) The c.477+5 G>A nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In silico algorithms predict it may damage or even destroy the natural splice donor site at the exon 2/intron 2 boundary, possibly leading to abnormal gene splicing. However, no splice mutations in the KCNQ3 gene have been published, and in the absence of RNA/functional studies, the actual effect of the c.477+5 G>A sequence change is unknown. The variant is found in INFANT-EPI panel(s).

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