ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.476G>T (p.Gly159Val)

gnomAD frequency: 0.00055  dbSNP: rs143813417
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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 RCV000897878 SCV001042049 benign not provided 2023-05-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000897878 SCV001155853 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PMPCA: BS1
GeneDx RCV000897878 SCV002015497 uncertain significance not provided 2021-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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