ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.61-3T>C

dbSNP: rs1878260066
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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 RCV001093525 SCV001250565 uncertain significance Phenylketonuria 2019-11-22 reviewed by expert panel curation This c.61-3T>C variant in PAH was reported twice in the Chinese PKU population, although this may be the same patient (PMID: 26503515; 28982351). DHPR activity, biopterin and/or pteridine analysis was performed to rule out other causes of hyperphenylalaninemia. This variant is absent from the population databases ExAC and gnomAD. However, in silico splicing predictions suggest no splicing impact (HSP, MaxENT, TraP). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_moderate, PM2, PM3, BP4.

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