ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)

dbSNP: rs2103783763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384453 SCV001583951 pathogenic Alstrom syndrome 2022-12-02 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: 1071884). This premature translational stop signal has been observed in individual(s) with Alstrom Syndrome (PMID: 25846608). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1573*) 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).
GeneDx RCV003128764 SCV003806237 pathogenic not provided 2022-09-06 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25846608)

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