ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.438C>T (p.His146=)

gnomAD frequency: 0.00006  dbSNP: rs191142120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001272955 SCV004015316 uncertain significance Phenylketonuria 2023-07-23 reviewed by expert panel curation The NM_000277.3:c.438C>T variant in PAH is a synonymous (silent) variant (p.His146=) 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. The highest population minor allele frequency in gnomAD v2.1.1 is 0.0002003 (5/24962 alleles) in the African/African American population (none of the population data codes are met). There is a ClinVar entry for this variant (Variation ID: 755030, 1 star review status) with one submitter 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): no criteria are met.
Invitae RCV001272955 SCV001616184 likely benign Phenylketonuria 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272955 SCV001455416 uncertain significance Phenylketonuria 2020-04-17 no assertion criteria provided clinical testing

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