ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) (rs28730854)

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Total submissions: 4
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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 2020-06-30 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 idividuals with clinical features of Alstrom syndrome (PMID: 17594715, 30488743). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266523 SCV001444698 pathogenic Inborn genetic diseases 2020-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001091888 SCV001770596 pathogenic not provided 2020-06-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 17594715, 31106028, 29302074, 30488743, 30064963)

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