ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.531G>A (p.Thr177=)

gnomAD frequency: 0.00001  dbSNP: rs930841516
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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 RCV001058742 SCV001223333 uncertain significance Amelocerebrohypohidrotic syndrome 2022-06-22 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 853841). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change affects codon 177 of the ROGDI mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ROGDI protein. This variant also falls at the last nucleotide of exon 7, which is part of the consensus splice site for this exon.
PreventionGenetics, part of Exact Sciences RCV004758141 SCV005354064 likely benign ROGDI-related disorder 2024-08-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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