ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)

gnomAD frequency: 0.48848  dbSNP: rs2627765
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127509 SCV000171086 benign not specified 2013-09-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676644 SCV001733483 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789179 SCV002031592 benign Combined oxidative phosphorylation defect type 13 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789180 SCV002031593 benign Autosomal recessive nonsyndromic hearing loss 70 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676644 SCV005244178 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676644 SCV000802437 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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