ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.1651A>G (p.Ile551Val)

gnomAD frequency: 0.00012  dbSNP: rs183202655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553537 SCV001774423 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003931181 SCV004741204 likely benign PTPRQ-related disorder 2023-06-29 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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