ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) (rs367877017)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000277971 SCV000330393 pathogenic not provided 2019-09-13 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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26283575, 17594715)
Invitae RCV000672084 SCV001582503 pathogenic Alstrom syndrome 2020-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3736*) 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 in individual(s) with Alstrom syndrome (PMID: 17594715, 26283575,28432734). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 280474). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000672084 SCV000797148 pathogenic Alstrom syndrome 2018-01-15 no assertion criteria provided clinical testing

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