ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg)

gnomAD frequency: 0.02213  dbSNP: rs55702300
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441323 SCV000525748 benign not specified 2016-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803732 SCV002049502 benign Cardiomyopathy, familial hypertrophic 27 2023-11-02 criteria provided, single submitter clinical testing
Invitae RCV002058937 SCV002371937 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411346 SCV002714915 benign Cardiovascular phenotype 2018-12-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441323 SCV003928521 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533034 SCV004739471 benign ALPK3-related disorder 2019-02-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000441323 SCV001917105 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000441323 SCV001965472 benign not specified no assertion criteria provided clinical testing

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