ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.285C>T (p.Ile95=)

dbSNP: rs1877427309
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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 RCV001269064 SCV001448286 uncertain significance Phenylketonuria 2020-10-16 reviewed by expert panel curation This c.285C>T (p.Ile95Ile) variant in PAH was reported in one patient with classic PKU, detected with pathogenic variant p.Y204C (phase unknown). BH4 cofactor deficiency was ruled out through unknown methods (PMID: 30459323). This variant is absent from controls in population databases. Computational prediction algorithms predict that this synonymous variant does not impact the splice consensus sequence nor does it create a new splice site. In summary, this variant meets criteria to be classified as Uncertain Significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4, and BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001269064 SCV001621861 likely benign Phenylketonuria 2023-12-17 criteria provided, single submitter clinical testing

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