ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.1324T>G (p.Ser442Ala)

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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 RCV004890700 SCV005535996 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing The c.1324T>G (p.S442A) alteration is located in exon 11 (coding exon 11) of the AXL gene. This alteration results from a T to G substitution at nucleotide position 1324, causing the serine (S) at amino acid position 442 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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