Total submissions: 5
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 | |
Gene |
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, |
RCV000665410 | SCV001459606 | uncertain significance | Alstrom syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |