ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.559G>C (p.Asp187His)

dbSNP: rs773589345
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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 RCV001947162 SCV002132891 uncertain significance Amelocerebrohypohidrotic syndrome 2021-07-13 criteria provided, single submitter clinical testing 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 disruptive. This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with histidine at codon 187 of the ROGDI protein (p.Asp187His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. 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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