ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9782-1G>A

dbSNP: rs1673992163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060831 SCV001225544 likely pathogenic Alstrom syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 855547). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001060831 SCV002812959 likely pathogenic Alstrom syndrome 2022-04-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001060831 SCV001453038 likely pathogenic Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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