ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)

gnomAD frequency: 0.00003  dbSNP: rs764668676
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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 RCV001245263 SCV001418538 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs764668676, gnomAD 0.007%). This sequence change affects codon 22 of the SDCCAG8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDCCAG8 protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 969829). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV004538516 SCV004730061 likely benign SDCCAG8-related disorder 2020-07-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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