ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.1580G>A (p.Arg527Gln)

gnomAD frequency: 0.00001  dbSNP: rs777326148
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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 RCV004216154 SCV003717087 uncertain significance not specified 2022-07-06 criteria provided, single submitter clinical testing The c.1580G>A (p.R527Q) alteration is located in exon 13 (coding exon 13) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 1580, causing the arginine (R) at amino acid position 527 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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