Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000665714 | SCV000789878 | pathogenic | Alstrom syndrome | 2017-02-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000665714 | SCV002242797 | pathogenic | Alstrom syndrome | 2022-10-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550848). This variant is also known as c.8395insA, c.8383insA or c.8394_8395insA. This premature translational stop signal has been observed in individuals with Alstrom syndrome (PMID: 11941369, 17594715, 24257694, 30064963). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu2799Ilefs*4) 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). |
| Ambry Genetics | RCV002440409 | SCV002677723 | pathogenic | Cardiovascular phenotype | 2019-01-04 | criteria provided, single submitter | clinical testing | The c.8394dupA pathogenic mutation, located in coding exon 10 of the ALMS1 gene, results from a duplication of A at nucleotide position 8394, causing a translational frameshift with a predicted alternate stop codon (p.L2799Ifs*4). This alteration has been described in the homozygous or compound heterozygous state in multiple individuals with Alström syndrome (Marshall JD et al. Hum. Mutat., 2007 Nov;28:1114-23; Gee HY et al. Kidney Int., 2014 Apr;85:880-7). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |