ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.4442A>T (p.Gln1481Leu)

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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 RCV004633943 SCV005133173 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The p.Q1481L variant (also known as c.4442A>T), located in coding exon 4 of the ALPK2 gene, results from an A to T substitution at nucleotide position 4442. The glutamine at codon 1481 is replaced by leucine, an amino acid with dissimilar 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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