ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.374A>C (p.Tyr125Ser)

gnomAD frequency: 0.00001  dbSNP: rs1190821261
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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 RCV001323930 SCV001514865 uncertain significance Amelocerebrohypohidrotic syndrome 2022-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 125 of the ROGDI protein (p.Tyr125Ser). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 1023824).

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