ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.3810C>A (p.Asp1270Glu)

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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 RCV004048139 SCV002622391 uncertain significance not specified 2024-04-07 criteria provided, single submitter clinical testing The p.D1270E variant (also known as c.3810C>A), located in coding exon 4 of the ALPK2 gene, results from a C to A substitution at nucleotide position 3810. The aspartic acid at codon 1270 is replaced by glutamic acid, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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