ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2399_2406del (p.Gly800fs) (rs1554425146)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599355 SCV000709883 pathogenic not provided 2015-10-08 criteria provided, single submitter clinical testing Although the pathogenic c.2398+1_2398+8delGTATGGGG variant in the KNCH2 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge, it results in the destruction of the canonical splice donor site in intron 9 and is predicted to cause abnormal gene splicing. Other splice site variants affecting this canonical splice site in the KCNH2 gene have been reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014). Furthermore, the c.2398+1_2398+8delGTATGGGG variant 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. In summary, c.2398+1_2398+8delGTATGGGG in the KCNH2 gene is interpreted as a pathogenic variant.

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