ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.697G>A (p.Glu233Lys)

gnomAD frequency: 0.00004  dbSNP: rs370388318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050485 SCV001214594 uncertain significance Amelocerebrohypohidrotic syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 233 of the ROGDI protein (p.Glu233Lys). This variant is present in population databases (rs370388318, gnomAD 0.008%). 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: 847029). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002553728 SCV003747544 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.697G>A (p.E233K) alteration is located in exon 10 (coding exon 10) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 697, causing the glutamic acid (E) at amino acid position 233 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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