ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.399T>C (p.Asn133=)

gnomAD frequency: 0.00019  dbSNP: rs145692106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000904703 SCV001762336 benign Phenylketonuria 2021-07-25 reviewed by expert panel curation The c.399T>C (p.Asn387=) variant in PAH meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BS1: MAF = 0.00675 which is within the threshold for this expert group. BS7: HSF, Splice AI and TraP predict no significant impact on splicing signals.BS2: Observed in two healthy homozygotes in gnomAd and ExAc.
Invitae RCV000904703 SCV001049238 likely benign Phenylketonuria 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000904703 SCV001272691 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.
Ambry Genetics RCV003307675 SCV003993352 likely benign Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000904703 SCV001455110 likely benign Phenylketonuria 2020-09-16 no assertion criteria provided clinical testing

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