ClinVar Miner

Submissions for variant NM_020778.4(ALPK3):c.1018C>T (p.Gln340Ter) (rs200889953)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613410 SCV000711735 likely pathogenic Hypertrophic cardiomyopathy 2015-10-28 criteria provided, single submitter clinical testing The p.Gln340X variant in ALPK3 has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. This nonsense v ariant leads to a premature termination codon at position 340, which is predicte d to lead to a truncated or absent protein. Biallelic loss-of-function (LOF) var iants in the ALPK3 gene have been reported in multiple individuals and in a mous e model with cardiomyopathy (HCM or mixed HCM/DCM; Almomani 2016, Phelan 2016, V an Sligtenhorst 2012). In summary, although additional studies are required to f ully establish its clinical significance, the p.Gln340X variant is likely pathog enic. ACMG/AMP Criteria applied: PM2, PVS1_Strong.

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