ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr)

dbSNP: rs756917973
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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 RCV001352410 SCV001546962 uncertain significance Amelocerebrohypohidrotic syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 223 of the ROGDI protein (p.Ala223Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs756917973, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004656554 SCV005156071 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.667G>A (p.A223T) alteration is located in exon 9 (coding exon 9) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 667, causing the alanine (A) at amino acid position 223 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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