ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.178A>G (p.Ile60Val)

dbSNP: rs761830220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529015 SCV000645818 uncertain significance Legius syndrome 2022-08-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 468793). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant is present in population databases (rs761830220, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 60 of the SPRED1 protein (p.Ile60Val).

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