ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys)

dbSNP: rs1250974056
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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 RCV001867076 SCV002126769 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-11-15 criteria provided, single submitter clinical testing 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: 1355736). 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 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 457 of the SDCCAG8 protein (p.Met457Lys).

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