ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.185C>T (p.Pro62Leu)

gnomAD frequency: 0.00002  dbSNP: rs754467673
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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 RCV001201671 SCV001372753 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-09-16 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. 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: 933454). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs754467673, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 62 of the ADAR protein (p.Pro62Leu).
CeGaT Center for Human Genetics Tuebingen RCV004597967 SCV005092844 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing ADAR: PM2, BP4

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