ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.4565G>C (p.Gly1522Ala)

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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 RCV004051434 SCV002636040 uncertain significance not specified 2022-05-26 criteria provided, single submitter clinical testing The p.G1522A variant (also known as c.4565G>C), located in coding exon 4 of the ALPK2 gene, results from a G to C substitution at nucleotide position 4565. The glycine at codon 1522 is replaced by alanine, 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.

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