ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp)

gnomAD frequency: 0.00001  dbSNP: rs755142891
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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 RCV001874674 SCV002137066 uncertain significance Atypical glycine encephalopathy 2022-06-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs755142891, gnomAD 0.01%). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1369503). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 554 of the SLC6A9 protein (p.Arg554Trp).

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