Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194605 | SCV000246358 | pathogenic | Alstrom syndrome | 2014-05-06 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000194605 | SCV000790750 | pathogenic | Alstrom syndrome | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000194605 | SCV000950098 | pathogenic | Alstrom syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr1386Asnfs*15) 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 (rs757011587, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 23188138, 25296579, 25706677, 28432734). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 210127). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001091464 | SCV001247528 | pathogenic | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001091464 | SCV001447537 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV000194605 | SCV002768854 | pathogenic | Alstrom syndrome | 2020-05-21 | criteria provided, single submitter | clinical testing | A heterozygous duplication variant was identified, NM_015120.4(ALMS1):c.4156dupA in exon 8 of 23 of the ALMS1 gene. This duplication is predicted to cause a frameshift from amino acid position 1386 introducing a stop codon downstream; NP_055935.4(ALMS1):p.(Thr1386Asnfs*15), resulting in loss of normal protein function through nonsense-mediated decay (NMD). The variant is present in the gnomAD population database at a global population frequency of 0.0021% (6 heterozygotes, 0 homozygotes), with a European sub-population frequency of 0.0047%. The variant has been previously reported in patients with Alstrom syndrome (ClinVar, Dotan, G. et al. (2017)). Other variants predicted to cause NMD have been reported as pathogenic in individuals with Alstrom syndrome (ClinVar, Marshall, J. D. et al. (2007)). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. |
Laboratory of Genetics in Ophthalmology, |
RCV000194605 | SCV001432510 | pathogenic | Alstrom syndrome | no assertion criteria provided | research | ||
Natera, |
RCV000194605 | SCV002080499 | pathogenic | Alstrom syndrome | 2020-09-10 | no assertion criteria provided | clinical testing |