ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.20C>A (p.Ala7Glu)

gnomAD frequency: 0.00008  dbSNP: rs752140233
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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 RCV001060653 SCV001225357 uncertain significance Amelocerebrohypohidrotic syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 7 of the ROGDI protein (p.Ala7Glu). This variant is present in population databases (rs752140233, 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: 855392). 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"). 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 RCV002553887 SCV003734597 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.20C>A (p.A7E) alteration is located in exon 1 (coding exon 1) of the ROGDI gene. This alteration results from a C to A substitution at nucleotide position 20, causing the alanine (A) at amino acid position 7 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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