ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.578A>T (p.Tyr193Phe)

dbSNP: rs80033521
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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 RCV000696246 SCV000824798 uncertain significance Amelocerebrohypohidrotic syndrome 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 193 of the ROGDI protein (p.Tyr193Phe). This variant is present in population databases (rs80033521, gnomAD 0.06%). 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: 574332). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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