ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) (rs281865432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000106353 SCV001250558 uncertain significance Phenylketonuria 2020-01-25 reviewed by expert panel curation The c.284_285delTCinsCA (p.Ile95Thr) indel variant in PAH has not been reported in the literature to our knowledge. It has been included in BioPKU/PAHdb (PAH0793) by online submission (Namour et al.,2013). It is absent from ExAC, gnomAD, 1000G, and ESP. There is not consensus among predictions of pathogenicity. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
Inserm U 954, Faculté de Médecine de Nancy RCV000106353 SCV000143852 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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