ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811516 SCV000951784 uncertain significance Legius syndrome 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 134 of the SPRED1 protein (p.Ala134Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs762633609, ExAC 0.01%). This variant has not been reported in the literature in individuals with SPRED1-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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