ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.718T>C (p.Ser240Pro)

gnomAD frequency: 0.00001  dbSNP: rs121909589
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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 RCV002514110 SCV003523378 uncertain significance not provided 2023-02-05 criteria provided, single submitter clinical testing This variant is also known as T822C S206P. This missense change has been observed in individual(s) with hemolytic uremic syndrome (PMID: 14566051). This variant is present in population databases (rs121909589, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 240 of the CD46 protein (p.Ser240Pro). ClinVar contains an entry for this variant (Variation ID: 17046). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CD46 protein function. Experimental studies have shown that this missense change affects CD46 function (PMID: 14566051). 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.
OMIM RCV000018574 SCV000038857 risk factor Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2003-10-28 no assertion criteria provided literature only

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