ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.658G>A (p.Ala220Thr)

gnomAD frequency: 0.00027  dbSNP: rs546063670
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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 RCV001245171 SCV001418441 uncertain significance Amelocerebrohypohidrotic syndrome 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 220 of the ROGDI protein (p.Ala220Thr). This variant is present in population databases (rs546063670, gnomAD 0.1%). 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: 969753). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692320 SCV005194197 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004960642 SCV005490507 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.658G>A (p.A220T) 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 658, causing the alanine (A) at amino acid position 220 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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