ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn)

dbSNP: rs2148018533
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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 RCV001866750 SCV002120236 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-04-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 590 of the SDCCAG8 protein (p.Thr590Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SDCCAG8-related conditions.

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