ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.730G>A (p.Val244Met)

gnomAD frequency: 0.00001  dbSNP: rs748820137
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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 RCV002044538 SCV002108057 uncertain significance Amelocerebrohypohidrotic syndrome 2022-10-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs748820137, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 244 of the ROGDI protein (p.Val244Met). ClinVar contains an entry for this variant (Variation ID: 1351183). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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