ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu)

gnomAD frequency: 0.00001  dbSNP: rs576992025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784170 SCV002025716 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2020-04-30 criteria provided, single submitter clinical testing The heterozygous missense variant, p.Val1489Leu, in ASXL3 has not been reported in affected individuals in the literature. The variant is extremely rare in the gnomAD database with an allele frequency of 0.000007110; 2 out of 281,308 heterozygous alleles. The p.Val1489Leu affects a weakly conserved residue and in silico prediction tools provide conflicting interpretations about its potential pathogenicity. Based on the available evidence, the p.Val1489Leu variant in the ASXL3 gene is assessed as a variant of uncertain significance.

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