ClinVar Miner

Submissions for variant NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)

gnomAD frequency: 0.14574  dbSNP: rs1566734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777134 SCV002014655 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.063, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Mendelics RCV001777134 SCV002519797 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490345 SCV002795563 benign Colorectal cancer 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974812 SCV004793252 likely benign PTPRJ-related disorder 2019-10-23 criteria provided, single submitter 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).
OMIM RCV000009227 SCV000029445 pathogenic Carcinoma of colon 2002-07-01 no assertion criteria provided literature only

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