ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2032C>G (p.Pro678Ala) (rs41313764)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181908 SCV000234211 uncertain significance not provided 2012-06-27 criteria provided, single submitter clinical testing p.Pro1018Ala (CCC>GCC): c.3052 C>G in exon 13 of the HERG gene (NM_000238.2). The Pro1018Ala variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Pro1018Ala results in a semi-conservative amino acid substitution of a one non-polar residue for another at a position that is conserved across species. Pro1018Ala is reported in 1/280 chromosomes from the PharmGKB database in dbSNP. Nevertheless, the NHLBI ESP Exome Variant Server reports Pro1018Ala was not observed in approximately 4,700 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, no missense mutations in surrounding residues has been reported in association with LQTS, indicating this region of the protein may be tolerant of change.With the clinical and molecular information available at this time, we cannot definitively determine if Pro1018Ala is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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