ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1298G>A (p.Cys433Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350496 SCV001544899 uncertain significance Legius syndrome 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 433 of the SPRED1 protein (p.Cys433Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs779454951, ExAC 0.05%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with SPRED1-related conditions. Experimental studies have shown that this variant does not substantially affect SPRED1 protein function (PMID: 19920235). 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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