ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2132+1G>T (rs1057518151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414266 SCV000491582 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing Although the c.3152+1 G>T pathogenic variant in the KCNH2 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge, it destroys the canonical splice donor site in intron 13 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other downstream splice site variants in the KCNH2 gene and a different pathogenic variant affecting the same nucleotide (c.3152+1 G>A) have been reported in HGMD in association with LQTS (Stenson et al., 2014). Furthermore, the c.3152+1 G>T variant was not observed in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 6X).In summary, c.3152+1 G>T in the KCNH2 gene is interpreted as a pathogenic variant.

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