ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.4250C>A (p.Ala1417Asp)

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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 RCV004246394 SCV003854200 uncertain significance not specified 2022-11-24 criteria provided, single submitter clinical testing The p.A1417D variant (also known as c.4250C>A), located in coding exon 4 of the ALPK2 gene, results from a C to A substitution at nucleotide position 4250. The alanine at codon 1417 is replaced by aspartic acid, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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