ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.467del (p.Ala156fs)

dbSNP: rs2499636974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306609 SCV002602638 likely pathogenic Phenylketonuria 2021-11-03 criteria provided, single submitter clinical testing NM_000277.1(PAH):c.467delC(A156Efs*39) is expected to be pathogenic in the context of phenylalanine hydroxylase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PAH, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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