ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)

dbSNP: rs771459937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671260 SCV000796217 likely pathogenic Alstrom syndrome 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV000671260 SCV001380855 pathogenic Alstrom syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr727Leufs*12) 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 present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 555437). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000671260 SCV002807647 pathogenic Alstrom syndrome 2021-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671260 SCV002080448 pathogenic Alstrom syndrome 2020-07-28 no assertion criteria provided clinical testing

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