ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.445G>C (p.Val149Leu)

gnomAD frequency: 0.00001  dbSNP: rs1248019368
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957852 SCV002215981 uncertain significance Amelocerebrohypohidrotic syndrome 2022-11-15 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1438429). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 149 of the ROGDI protein (p.Val149Leu).

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