ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003306288 SCV003995678 uncertain significance Cardiovascular phenotype 2023-05-15 criteria provided, single submitter clinical testing The p.P700S variant (also known as c.2098C>T), located in coding exon 5 of the ALPK3 gene, results from a C to T substitution at nucleotide position 2098. The proline at codon 700 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492853 SCV004238577 uncertain significance Cardiomyopathy, familial hypertrophic 27 2023-06-08 criteria provided, single submitter clinical testing

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