ClinVar Miner

Submissions for variant NM_080601.3(PTPN11):c.762_764ACA[2] (p.Gln257del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics,University Hospital Magdeburg RCV000991102 SCV001132049 uncertain significance Noonan syndrome 1 2019-12-19 no assertion criteria provided clinical testing We found the variant in an affected girl. Her father also carries the variant, but is not affected. However, Noonan syndrome may be subtle in adults and clinical variation within families has been described. Two alleles were reported in gnomAD (AF 8.081e-6). Biochemical and functional studies show an activating effect, but not as strongly as for the Q257dup mutation.

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