ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)

gnomAD frequency: 0.00507  dbSNP: rs146111948
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200542 SCV000252101 benign not specified 2014-09-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000676645 SCV001109961 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000676645 SCV001145128 benign not provided 2019-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676645 SCV001152312 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PNPT1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004530173 SCV004729131 likely benign PNPT1-related disorder 2019-08-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676645 SCV000802438 likely benign not provided 2018-03-19 no assertion criteria provided clinical testing

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