ClinVar Miner

Submissions for variant NM_052947.4(ALPK2):c.3706C>G (p.Leu1236Val)

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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 RCV004522340 SCV005029920 uncertain significance not specified 2023-12-26 criteria provided, single submitter clinical testing The p.L1236V variant (also known as c.3706C>G), located in coding exon 4 of the ALPK2 gene, results from a C to G substitution at nucleotide position 3706. The leucine at codon 1236 is replaced by valine, 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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