ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)

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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 RCV002790444 SCV003032857 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-22 criteria provided, single submitter clinical testing This sequence change affects codon 351 of the SDCCAG8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDCCAG8 protein. This variant is present in population databases (rs777038486, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. 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.

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