ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.2270A>G (p.Glu757Gly)

gnomAD frequency: 0.00011  dbSNP: rs146263330
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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 RCV004423399 SCV004912404 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.2270A>G (p.E757G) alteration is located in exon 19 (coding exon 19) of the AXL gene. This alteration results from a A to G substitution at nucleotide position 2270, causing the glutamic acid (E) at amino acid position 757 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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