ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1161C>T (p.Tyr387=)

gnomAD frequency: 0.00023  dbSNP: rs149595475
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000872521 SCV002032186 uncertain significance Phenylketonuria 2021-09-26 reviewed by expert panel curation The c.1161C>T (p.Tyr387=) variant in PAH has not been reported in the literature to our knowledge. It is a silent variant with no splice impact predicted. It is present at low frequencies in population databases (MAF 0.00024 in gnomAd and ExAc, 0 homozygotes) which is above our threshold for PM2 (<0.0002) but below our threshold for BS1 (>0.002). Therefore, it meets criteria to be classified as uncertain significance. PAH-specific ACMG/AMP criteria applied: BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872521 SCV001014345 likely benign Phenylketonuria 2025-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872521 SCV001268944 uncertain significance Phenylketonuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194093 SCV001363370 likely benign not specified 2019-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000872521 SCV001810173 likely benign Phenylketonuria 2021-07-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800901 SCV002046650 likely benign not provided 2021-02-16 criteria provided, single submitter clinical testing

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