ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.2056G>A (p.Val686Met)

gnomAD frequency: 0.00001  dbSNP: rs763877877
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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 RCV004423398 SCV004912403 uncertain significance not specified 2023-11-17 criteria provided, single submitter clinical testing The c.2056G>A (p.V686M) alteration is located in exon 18 (coding exon 18) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 2056, causing the valine (V) at amino acid position 686 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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