ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)

dbSNP: rs758952057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674581 SCV000799941 likely pathogenic Alstrom syndrome 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000674581 SCV000937664 pathogenic Alstrom syndrome 2021-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 558330). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (rs758952057, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Ser269*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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