ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)

dbSNP: rs1671240457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059830 SCV001224478 pathogenic Alstrom syndrome 2019-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant has been observed in individual(s) with Alstrom syndrome (PMID: 25296579, 25846608). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln198*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product.

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