ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)

dbSNP: rs149038104
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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 RCV001382396 SCV001581148 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2020-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237). This variant has been observed in individual(s) with clinical features of SDCCAG8-related conditions (PMID: 23559409). This variant is present in population databases (rs149038104, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Glu262*) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001382396 SCV002813456 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-21 criteria provided, single submitter clinical testing

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