ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.1422G>C (p.Met474Ile)

dbSNP: rs2089180172
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241961 SCV001507160 uncertain significance Chondrodysplasia punctata, brachytelephalangic, autosomal 2022-07-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARSE-related conditions. 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: 1017388). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 474 of the ARSE protein (p.Met474Ile).

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