ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60+62C>T

gnomAD frequency: 0.34408  dbSNP: rs1522296
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000709703 SCV001250539 benign Phenylketonuria 2019-11-08 reviewed by expert panel curation The c.60+62C>T intronic variant in PAH has a MAF of 0.3441 in gnomAD with 2,014 homozygotes.In summary, this variant meets criteria to be classified as benign for PAH. PAH-specific ACMG/AMP criteria applied: BA1, BS2, BP7.
Pars Genome Lab RCV000709703 SCV001750014 benign Phenylketonuria 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001598678 SCV001827402 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001703234 SCV002014653 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.521, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Molecular Genetics, Royal Melbourne Hospital RCV000709703 SCV004812732 benign Phenylketonuria 2023-05-04 criteria provided, single submitter clinical testing African/African American population allele frequency is 48.34% (rs1522296, 4299/8672 alleles, 1055 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.2.1, this variant is classified as BENIGN. Following criteria are met: BA1
Breakthrough Genomics, Breakthrough Genomics RCV001598678 SCV005235510 benign not provided criteria provided, single submitter not provided
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital RCV000709703 SCV000839874 likely pathogenic Phenylketonuria 2018-06-26 no assertion criteria provided case-control
Reproductive Health Research and Development, BGI Genomics RCV000709703 SCV001142436 benign Phenylketonuria 2020-01-06 no assertion criteria provided curation NG_008690.2(NM_000277.2):c.60+62C>T in the gene PAH has an allele frequency of 0.496 in African subpopulation in the gnomAD database. A total of 2014 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703234 SCV001930245 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703234 SCV001954627 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003980322 SCV004798874 benign PAH-related disorder 2021-02-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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