ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)

dbSNP: rs62651568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000089163 SCV001370956 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001240978 SCV001413967 pathogenic Phenylketonuria 2023-04-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 102900). This premature translational stop signal has been observed in individual(s) with PAH-related conditions (PMID: 10394930). This variant is present in population databases (rs62651568, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu311*) in the PAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518).
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089163 SCV000119778 not provided not provided no assertion provided not provided

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