ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.186C>T (p.Ser62=)

gnomAD frequency: 0.00002  dbSNP: rs116058119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159428 SCV002333884 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002423300 SCV002676559 likely benign Cardiovascular phenotype 2019-10-20 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.
GeneDx RCV002159428 SCV003915161 uncertain significance not provided 2022-10-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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