Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666067 | SCV000790303 | uncertain significance | Alstrom syndrome | 2017-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666067 | SCV001545320 | uncertain significance | Alstrom syndrome | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 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 (rs572922738, gnomAD 0.01%). 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: 551099). 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 may create or strengthen a splice site. 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. |
Natera, |
RCV000666067 | SCV002080410 | uncertain significance | Alstrom syndrome | 2021-05-04 | no assertion criteria provided | clinical testing |