ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)

dbSNP: rs1347176614
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997165 SCV001152349 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858855 SCV002247206 pathogenic Alstrom syndrome 2021-08-04 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: 808770). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 25846608). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu543*) 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).
Fulgent Genetics, Fulgent Genetics RCV001858855 SCV002808266 likely pathogenic Alstrom syndrome 2022-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000997165 SCV005442953 pathogenic not provided 2024-07-03 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, 32531858)

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