ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.510-20_510-18dup

dbSNP: rs398123293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514715 SCV001722627 benign Phenylketonuria 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001797055 SCV002039095 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078525 SCV003922613 benign not specified 2023-03-27 criteria provided, single submitter clinical testing Variant summary: PAH c.510-20_510-18dupATT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 0.0011 in 281816 control chromosomes, predominantly at a frequency of 0.011 within the African or African-American subpopulation in the gnomAD database, including 3 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 1.4 fold of the estimated maximal expected allele frequency for a pathogenic variant in PAH causing Phenylalanine Hydroxylase Deficiency (Phenylketonuria) phenotype (0.0079), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.510-20_510-18dupATT in individuals affected with Phenylalanine Hydroxylase Deficiency (Phenylketonuria) and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Eurofins Ntd Llc (ga) RCV000078525 SCV000110381 benign not specified 2012-12-21 no assertion criteria provided clinical testing

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