ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg)

dbSNP: rs1015302300
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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 RCV001980331 SCV002276299 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-16 criteria provided, single submitter clinical testing 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. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1488835). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 448 of the SDCCAG8 protein (p.Met448Arg).

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