ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.4388G>A (p.Ser1463Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004934244 SCV005601515 uncertain significance not specified 2024-06-25 criteria provided, single submitter clinical testing The p.S1463N variant (also known as c.4388G>A), located in coding exon 4 of the ALPK2 gene, results from a G to A substitution at nucleotide position 4388. The serine at codon 1463 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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