ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.724A>G (p.Ser242Gly)

gnomAD frequency: 0.00002  dbSNP: rs148274786
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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 RCV000691070 SCV000818810 uncertain significance Amelocerebrohypohidrotic syndrome 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 242 of the ROGDI protein (p.Ser242Gly). This variant is present in population databases (rs148274786, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 570251). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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