ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.49G>A (p.Glu17Lys)

gnomAD frequency: 0.00003  dbSNP: rs745342114
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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 RCV000636826 SCV000758267 uncertain significance Amelocerebrohypohidrotic syndrome 2022-02-25 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 17 of the ROGDI protein (p.Glu17Lys). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 530789).

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