ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)

gnomAD frequency: 0.00001  dbSNP: rs1392057115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204779 SCV001376000 pathogenic Alstrom syndrome 2023-02-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 936056). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln124*) 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 RCV003225156 SCV003921148 likely pathogenic not provided 2023-04-25 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); Has not been previously published as pathogenic or benign to our knowledge

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