ClinVar Miner

Submissions for variant NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=)

gnomAD frequency: 0.00196  dbSNP: rs150727538
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328908 SCV000334764 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000892015 SCV001035868 benign Spondyloepimetaphyseal dysplasia, PAPSS2 type 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422192 SCV004127029 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PAPSS2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003422192 SCV005319833 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003909941 SCV004724750 likely benign PAPSS2-related disorder 2019-06-17 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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