ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)

dbSNP: rs1426009756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389287 SCV001590596 pathogenic Alstrom syndrome 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg270*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ALMS1-related conditions (PMID: 26047050, 26077327, 29588463). ClinVar contains an entry for this variant (Variation ID: 812221).
MGZ Medical Genetics Center RCV001389287 SCV002580396 pathogenic Alstrom syndrome 2021-11-22 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267747 SCV001160896 pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV001389287 SCV002080391 pathogenic Alstrom syndrome 2020-07-29 no assertion criteria provided clinical testing

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