ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)

dbSNP: rs769219669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760673 SCV000890565 pathogenic not provided 2019-10-09 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: 25412400, 28724398, 31054281, 31630094)
Labcorp Genetics (formerly Invitae), Labcorp RCV001854999 SCV002234978 pathogenic Alstrom syndrome 2023-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 264657). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 28724398). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769219669, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser1301*) 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).

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