ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1077G>A (p.Val359=) (rs750375617)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187967 SCV000241570 uncertain significance not provided 2014-02-25 criteria provided, single submitter clinical testing p.Val359Val (V359V) GTG>GTA: c.1077 G>A in exon 7 of the KCNQ3 gene (NM_004519.2) A variant of unknown significance has been identified in the KCNQ3 gene. The c.1077 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico algorithms predict that the c.1077 G>A variant creates a new cryptic splice donor site; however, in the absence of RNA/functional studies the actual effect of c.1077 G>A on splicing is unknown. The variant is found in INFANT-EPI panel(s).
Invitae RCV000529175 SCV000649474 likely benign Benign familial neonatal seizures 2017-01-16 criteria provided, single submitter clinical testing

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