ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val) (rs780400607)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704018 SCV000832951 uncertain significance Spastic paraplegia 2018-05-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 44 of the SLC33A1 protein (p.Gly44Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs780400607, ExAC 0.003%). This variant has not been reported in the literature in individuals with SLC33A1-related disease. ClinVar contains an entry for this variant (Variation ID: 343884). 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. 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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