ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.2328T>A (p.Asp776Glu)

gnomAD frequency: 0.00001  dbSNP: rs759441780
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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 RCV004423400 SCV004912405 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.2328T>A (p.D776E) alteration is located in exon 19 (coding exon 19) of the AXL gene. This alteration results from a T to A substitution at nucleotide position 2328, causing the aspartic acid (D) at amino acid position 776 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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