ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.745G>A (p.Val249Met)

gnomAD frequency: 0.00004  dbSNP: rs774197508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001825312 SCV002340914 likely benign not provided 2023-02-24 criteria provided, single submitter clinical testing
GeneDx RCV001825312 SCV005327540 uncertain significance not provided 2024-03-04 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
GenomeConnect, ClinGen RCV001825312 SCV002075182 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-21-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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