ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)

gnomAD frequency: 0.00007  dbSNP: rs74701277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001345964 SCV001540119 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 372 of the SDCCAG8 protein (p.Ala372Val). This variant is present in population databases (rs74701277, gnomAD 0.01%). 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: 1042069). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV001345964 SCV002797594 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531140 SCV004733876 uncertain significance SDCCAG8-related disorder 2023-11-22 criteria provided, single submitter clinical testing The SDCCAG8 c.1115C>T variant is predicted to result in the amino acid substitution p.Ala372Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD. 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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