ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser)

gnomAD frequency: 0.00003  dbSNP: rs80033521
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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 RCV000553509 SCV000634371 uncertain significance Amelocerebrohypohidrotic syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 193 of the ROGDI protein (p.Tyr193Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. 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. 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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