ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs)

dbSNP: rs778900414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291294 SCV000341507 pathogenic not provided 2016-05-26 criteria provided, single submitter clinical testing
Invitae RCV001859669 SCV002236313 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 287667). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala387Profs*6) 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).

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