ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)

gnomAD frequency: 0.00006  dbSNP: rs752759589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001813854 SCV002061059 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001813854 SCV002485033 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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