ClinVar Miner

Submissions for variant NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter)

gnomAD frequency: 0.00003  dbSNP: rs375941290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001825216 SCV002559293 pathogenic not provided 2024-12-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825216 SCV002074939 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-27-2020 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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