ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)

dbSNP: rs780383722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066872 SCV003447611 pathogenic not provided 2022-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PNPT1-related conditions. This variant is present in population databases (rs780383722, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg132*) in the PNPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PNPT1 are known to be pathogenic (PMID: 28594066, 30244537).
3billion RCV003314052 SCV004013797 likely pathogenic Combined oxidative phosphorylation defect type 13 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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