ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.851A>G (p.Tyr284Cys)

gnomAD frequency: 0.00011  dbSNP: rs370584122
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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 RCV000560854 SCV000634377 uncertain significance Amelocerebrohypohidrotic syndrome 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 284 of the ROGDI protein (p.Tyr284Cys). This variant is present in population databases (rs370584122, gnomAD 0.03%). 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: 461619). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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