ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.5696G>C (p.Arg1899Pro)

dbSNP: rs562192619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501828 SCV000593470 likely benign not specified 2018-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955552 SCV005497469 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.5696G>C (p.R1899P) alteration is located in exon 12 (coding exon 12) of the ASXL3 gene. This alteration results from a G to C substitution at nucleotide position 5696, causing the arginine (R) at amino acid position 1899 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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