ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)

gnomAD frequency: 0.00020  dbSNP: rs56015306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423325 SCV000532516 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000423325 SCV000927213 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000423325 SCV002400626 benign not provided 2024-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374697 SCV002624416 likely benign Cardiovascular phenotype 2019-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV004533104 SCV004740189 likely benign ALPK3-related disorder 2019-09-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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