ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1140G>A (p.Thr380=)

gnomAD frequency: 0.00008  dbSNP: rs373763334
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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 RCV000908525 SCV004015315 uncertain significance Phenylketonuria 2023-07-23 reviewed by expert panel curation The NM_000277.3:c.1140G>A variant in PAH is a synonymous (silent) variant (p.Thr380=) 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 0.0004573 (14/30616 alleles) in the South Asian population (none of the population data codes are met). There is a ClinVar entry for this variant (Variation ID: 733267, 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 RCV000908525 SCV001053295 likely benign Phenylketonuria 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000908525 SCV001455411 uncertain significance Phenylketonuria 2020-02-13 no assertion criteria provided clinical testing

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