ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091888 SCV001248155 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001230120 SCV001402590 pathogenic Alstrom syndrome 2019-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2102*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs28730854, ExAC 0.02%). This variant has been observed in an individual affected with Alstrom syndrome (PMID: 17594715). 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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