ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11548-3T>C

gnomAD frequency: 0.00005  dbSNP: rs555547573
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665410 SCV000789529 uncertain significance Alstrom syndrome 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000827508 SCV000969160 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Invitae RCV000665410 SCV001416890 uncertain significance Alstrom syndrome 2022-09-15 criteria provided, single submitter clinical testing This sequence change falls in intron 16 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. This variant is present in population databases (rs555547573, gnomAD 0.009%). 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: 550620). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002360692 SCV002625401 uncertain significance Cardiovascular phenotype 2020-09-16 criteria provided, single submitter clinical testing The c.11551-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 17 in the ALMS1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000665410 SCV001459606 uncertain significance Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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