ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.5C>G (p.Ala2Gly) (rs199473442)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biotechnology Research Center,Pasteur Institute of Iran RCV000590986 SCV000584186 likely pathogenic Long QT syndrome 1 2017-07-27 criteria provided, single submitter research According to the ACMG standards and guidelines, the following evidences results in the likely pathogenic variant: Not reported in ExAC and 1000G project and in more than 1000 unrelated Iranian individuals (PM2) but known disease mutation at this position (HGMD ID: CM097076, ClinVar ID: 67091) (PM5) Co segregated with the disease in the family (PP1) Missense variants in KCNQ1 gene are a common mechanism of the LQT1 disease (PP2)

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