ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002625314 SCV003521499 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-23 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 tolerated. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs368583241, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 703 of the SDCCAG8 protein (p.Thr703Ile).
PreventionGenetics, part of Exact Sciences RCV004529225 SCV004106276 uncertain significance SDCCAG8-related disorder 2023-06-21 criteria provided, single submitter clinical testing The SDCCAG8 c.2108C>T variant is predicted to result in the amino acid substitution p.Thr703Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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