ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.377T>C (p.Phe126Ser)

gnomAD frequency: 0.00001  dbSNP: rs969922085
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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 RCV004230498 SCV003740082 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.377T>C (p.F126S) alteration is located in exon 3 (coding exon 3) of the AXL gene. This alteration results from a T to C substitution at nucleotide position 377, causing the phenylalanine (F) at amino acid position 126 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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