ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.13del (p.Val5fs)

dbSNP: rs1592991243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000993594 SCV001146685 pathogenic Phenylketonuria 2019-02-26 reviewed by expert panel curation The PAH: c.13delG variant is a frameshift variant occurring in exon 1 of 13 in the canonical transcript of PAH, a gene fulfilling the most recent criteria for LOF being a known disease mechanism (see PMID: 30192042) (PVS1). The variant has been previously reported the heterozygous state in 1 Chinese PKU case (PMID: 26503515); no further information regarding the patient's phenotype or the other accompanying allele was given (PP4). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).

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