ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)

gnomAD frequency: 0.00006  dbSNP: rs151166046
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199028 SCV000252106 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000199028 SCV001152314 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332755 SCV001525162 likely pathogenic Combined oxidative phosphorylation defect type 13 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000199028 SCV001707152 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003152597 SCV003841198 uncertain significance Spinocerebellar ataxia type 25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000199028 SCV004224917 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing PM2_supporting

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