ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.392A>C (p.Asp131Ala)

dbSNP: rs2082694603
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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 RCV001066570 SCV001231585 uncertain significance Amelocerebrohypohidrotic syndrome 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 131 of the ROGDI protein (p.Asp131Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ROGDI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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