ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11669-1G>C

gnomAD frequency: 0.00001  dbSNP: rs750737346
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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 RCV001942968 SCV002184865 pathogenic Alstrom syndrome 2022-06-13 criteria provided, single submitter clinical testing 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. Disruption of this splice site has been observed in individuals with clinical features of Alstrom syndrome (PMID: 29715191; Invitae). This variant is present in population databases (rs750737346, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 17 of the ALMS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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