ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.837C>T (p.Pro279=) (rs138355741)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000875702 SCV001250550 likely benign Phenylketonuria 2020-01-26 reviewed by expert panel curation The c.837C>T (p.Pro279=) variant in PAH has a MAF of 0.00201 in gnomAD (BS1). This is a synonymous variant, predicted tolerated and benign in SIFT, Polyphen. MutationTaster predicted polymorphism with no abrogation of splice sites (BP7). In summary, this variant meets criteria to be classified as likely benign.
GeneDx RCV000603245 SCV000728317 likely benign not specified 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000875702 SCV001018165 benign Phenylketonuria 2019-12-31 criteria provided, single submitter clinical testing

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