ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.112G>A (p.Val38Met)

gnomAD frequency: 0.00001  dbSNP: rs781049505
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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 RCV004141127 SCV003632269 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.112G>A (p.V38M) alteration is located in exon 2 (coding exon 2) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 112, causing the valine (V) at amino acid position 38 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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