ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr)

gnomAD frequency: 0.00202  dbSNP: rs199986476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612878 SCV000728104 likely benign not specified 2018-03-02 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.
Invitae RCV002066632 SCV002409174 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413752 SCV002720851 benign Cardiovascular phenotype 2021-10-28 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 RCV003758887 SCV004562470 benign Cardiomyopathy, familial hypertrophic 27 2023-08-31 criteria provided, single submitter clinical testing

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