ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)

gnomAD frequency: 0.02339  dbSNP: rs55752937
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428139 SCV000524356 benign not specified 2016-10-03 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000428139 SCV000711763 benign not specified 2018-01-23 criteria provided, single submitter clinical testing p.Arg1412Trp in exon 6 of ALPK3: This variant is not expected to have clinical s ignificance because it has been identified in 7.4% (153/2070) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55752937).
Invitae RCV002062648 SCV002487092 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328954 SCV002632819 benign Cardiovascular phenotype 2018-12-26 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114551 SCV003799295 benign Cardiomyopathy, familial hypertrophic 27 2023-11-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428139 SCV004038219 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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