ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.700T>G (p.Trp234Gly)

dbSNP: rs1252887236
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886160 SCV002157319 uncertain significance Amelocerebrohypohidrotic syndrome 2021-06-17 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ROGDI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with glycine at codon 234 of the ROGDI protein (p.Trp234Gly). The tryptophan residue is weakly conserved and there is a large physicochemical difference between tryptophan and glycine.

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