ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.691A>G (p.Met231Val)

gnomAD frequency: 0.00011  dbSNP: rs137934107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056123 SCV001220544 uncertain significance Amelocerebrohypohidrotic syndrome 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 231 of the ROGDI protein (p.Met231Val). This variant is present in population databases (rs137934107, gnomAD 0.04%). 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: 851681). 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: "Benign"; 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.
New York Genome Center RCV001056123 SCV002506834 uncertain significance Amelocerebrohypohidrotic syndrome 2021-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553362 SCV003666751 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.691A>G (p.M231V) alteration is located in exon 9 (coding exon 9) of the ROGDI gene. This alteration results from a A to G substitution at nucleotide position 691, causing the methionine (M) at amino acid position 231 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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