ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala) (rs749389617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793006 SCV000932339 uncertain significance Legius syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 430 of the SPRED1 protein (p.Gly430Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs749389617, ExAC 0.03%). This variant has not been reported in the literature in individuals with SPRED1-related disease. 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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