ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter)

dbSNP: rs1254495717
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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 RCV000818487 SCV000959102 pathogenic Alstrom syndrome 2018-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu101*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 not been reported in the literature in individuals with ALMS1-related disease.

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