ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.411C>T (p.Ser137=)

dbSNP: rs1801146
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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 RCV001114784 SCV001762337 uncertain significance Phenylketonuria 2020-03-26 reviewed by expert panel curation The c.411C>T (p.Ser137Ser) variant is absent from population databases (PM2). Human splice finder does not predict impact on a consensus splice site or creation of a new one, and there was no result in MaxEntScan (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
Illumina Laboratory Services, Illumina RCV001114784 SCV001272690 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.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088913 SCV000119511 not provided not provided no assertion provided not provided

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