ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)

gnomAD frequency: 0.00003  dbSNP: rs754237697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556438 SCV001778020 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001556438 SCV002329127 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing

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