ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.786C>T (p.Val262=)

gnomAD frequency: 0.00001  dbSNP: rs776860902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001113392 SCV004015318 uncertain significance Phenylketonuria 2023-07-23 reviewed by expert panel curation The NM_000277.3:c.786C>T in PAH is a synonymous (silent) variant (p.Val262=) that is not predicted to impact splicing. To our knowledge, this variant has not been reported in the literature and results of functional studies are unavailable. This variant is absent in gnomAD v2.1.1 (PM2_Supporting). There is a ClinVar entry for this variant (Variation ID: 883189, 1 star review status) with two submitters classifying the variant as a variant of uncertain significance and one submitter classifying the variant as likely benign. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for PAH deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen PAH Variant Curation Expert Panel (Specifications Version 2.0): PM2_Supporting.
Illumina Laboratory Services, Illumina RCV001113392 SCV001271164 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001113392 SCV001627641 likely benign Phenylketonuria 2023-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001113392 SCV001810395 uncertain significance Phenylketonuria 2021-07-22 criteria provided, single submitter clinical testing

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