ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg)

dbSNP: rs794727509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177261 SCV000229104 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700539 SCV005203654 pathogenic Allan-Herndon-Dudley syndrome 2024-07-05 criteria provided, single submitter clinical testing Variant summary: SLC16A2 c.604G>A (p.Gly202Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182387 control chromosomes (gnomAD). c.604G>A has been reported in the literature in multiple individuals affected with Allan-Herndon-Dudley Syndrome (e.g. Choi_2018, Islam_2019, Groeneweg_2020). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, finding that the variant results in 10%-<30% of normal T3 uptake activity (Islam_2019). The following publications have been ascertained in the context of this evaluation (PMID: 30497070, 30369548, 32559475). ClinVar contains an entry for this variant (Variation ID: 196440). Based on the evidence outlined above, the variant was classified as pathogenic.

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