ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.748G>C (p.Val250Leu)

dbSNP: rs749565672
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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 RCV001361639 SCV001557618 uncertain significance Amelocerebrohypohidrotic syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 250 of the ROGDI protein (p.Val250Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). 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.
GeneDx RCV001762621 SCV001998757 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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