Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673624 | SCV000798849 | likely pathogenic | Alstrom syndrome | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673624 | SCV001392084 | pathogenic | Alstrom syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val3906Glyfs*2) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 557476). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000673624 | SCV001810259 | likely pathogenic | Alstrom syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000673624 | SCV002814173 | likely pathogenic | Alstrom syndrome | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532150 | SCV003553098 | pathogenic | Inborn genetic diseases | 2020-12-28 | criteria provided, single submitter | clinical testing | The c.11717_11720delTTGG (p.V3906Gfs*2) alteration, located in coding exon 18 of the ALMS1 gene, consists of a deletion of 4 nucleotides from position 11717 to 11720, causing a translational frameshift with a predicted alternate stop codon after 2 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic. |