ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12299-3T>C

dbSNP: rs1553422034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673294 SCV000798478 uncertain significance Alstrom syndrome 2018-03-12 criteria provided, single submitter clinical testing
Invitae RCV000673294 SCV003022567 uncertain significance Alstrom syndrome 2022-06-15 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 557187). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 20 of the ALMS1 gene. It does not directly change the encoded amino acid sequence of the ALMS1 protein. It affects a nucleotide within the consensus splice site.

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