ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2507A>G (p.Tyr836Cys)

gnomAD frequency: 0.00106  dbSNP: rs149817592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521634 SCV001731010 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753357 SCV005354616 uncertain significance TOPORS-related disorder 2024-08-27 no assertion criteria provided clinical testing The TOPORS c.2507A>G variant is predicted to result in the amino acid substitution p.Tyr836Cys. This variant has been reported in two individuals with retinitis pigmentosa (Todorova et al. 2017. PubMed ID: 28147405). However, his variant is reported in 0.32% of alleles in individuals of African descent in gnomAD, which is likely too frequent to be a primary cause of disease. Though we suspect this variant may be benign, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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