ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002661362 SCV003539150 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.3193C>T (p.R1065W) alteration is located in exon 12 (coding exon 12) of the ASXL3 gene. This alteration results from a C to T substitution at nucleotide position 3193, causing the arginine (R) at amino acid position 1065 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140152 SCV003825175 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-02-05 criteria provided, single submitter clinical testing

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