ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)

gnomAD frequency: 0.00131  dbSNP: rs34928857
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199246 SCV000252109 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing Observed with a second PNPT1 variant on the opposite allele (in trans) in a patient with arm and leg weakness, developmental delay, scoliosis, epilepsy, and sensory axonal polyneuropathy (PMID: 35303589); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35303589)
Fulgent Genetics, Fulgent Genetics RCV000765691 SCV000897033 uncertain significance Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000199246 SCV001084377 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336837 SCV001530339 uncertain significance Combined oxidative phosphorylation defect type 13 2018-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004541264 SCV004773193 likely benign PNPT1-related disorder 2020-12-14 no assertion criteria provided 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).

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