ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg)

dbSNP: rs1566867214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689952 SCV000817624 uncertain significance Legius syndrome 2022-12-24 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects SPRED1 function (PMID: 26635368). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt SPRED1 function. ClinVar contains an entry for this variant (Variation ID: 569345). This missense change has been observed in individual(s) with Legius syndrome (PMID: 26635368). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 92 of the SPRED1 protein (p.Trp92Arg).

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