ClinVar Miner

Submissions for variant NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)

dbSNP: rs773402627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785146 SCV000923709 uncertain significance Shashi-Pena syndrome 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003279059 SCV003981537 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.4118T>C (p.M1373T) alteration is located in exon 13 (coding exon 13) of the ASXL2 gene. This alteration results from a T to C substitution at nucleotide position 4118, causing the methionine (M) at amino acid position 1373 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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