ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)

gnomAD frequency: 0.00001  dbSNP: rs267607031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764499 SCV004584044 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys227*) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896). This variant is present in population databases (rs267607031, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with nephronophthisis-related ciliopathies (PMID: 20835237). ClinVar contains an entry for this variant (Variation ID: 61). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000078 SCV000020221 pathogenic Bardet-Biedl syndrome 16 2011-09-01 no assertion criteria provided literature only

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