ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His)

gnomAD frequency: 0.00001  dbSNP: rs1182496392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210642 SCV001382138 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 459 of the SDCCAG8 protein (p.Tyr459His). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 940955). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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