ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del)

dbSNP: rs751809435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002061135 SCV002345885 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV002061135 SCV005081171 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35032046, 36978159, 31395947)
Regeneron Genetics Center, Regeneron RCV000853207 SCV000927114 likely pathogenic Global developmental delay; Brain atrophy 2019-02-15 no assertion criteria provided research Identified in cohort of patients with neurodevelopmental disorder accompanied by structural brain abnormalities
OMIM RCV001171373 SCV001334064 pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 2020-05-28 no assertion criteria provided literature only

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