ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283738 SCV002572771 uncertain significance Congenital amegakaryocytic thrombocytopenia 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.21). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MPL -related disorder (PMID: 17666371). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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