ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1237+2T>C (rs916056435)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444958 SCV000532999 likely pathogenic not provided 2021-07-22 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)
Invitae RCV000664556 SCV001576180 likely pathogenic Alstrom syndrome 2020-03-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the ALMS1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 390220). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). 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.
Counsyl RCV000664556 SCV000788540 likely pathogenic Alstrom syndrome 2017-10-04 no assertion criteria provided clinical testing

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