ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.347C>G (p.Ala116Gly)

gnomAD frequency: 0.00001  dbSNP: rs1060502982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462625 SCV000551452 uncertain significance Amelocerebrohypohidrotic syndrome 2016-05-10 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ROGDI-related disease. This sequence change replaces alanine with glycine at codon 116 of the ROGDI protein (p.Ala116Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.

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