ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)

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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 RCV002910029 SCV003265856 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met185Alafs*9) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 2055381). For these reasons, this variant has been classified as Pathogenic.

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