ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2153C>T (p.Pro718Leu)

gnomAD frequency: 0.00007  dbSNP: rs200475039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758939 SCV002006135 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001758939 SCV002264313 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 718 of the PTPN23 protein (p.Pro718Leu). This variant is present in population databases (rs200475039, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PTPN23-related conditions. ClinVar contains an entry for this variant (Variation ID: 1317067). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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