ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) (rs771459937)

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Total submissions: 2
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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 2019-09-08 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 555437). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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