Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666405 | SCV000790691 | uncertain significance | Alstrom syndrome | 2017-04-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352089 | SCV002620196 | uncertain significance | Cardiovascular phenotype | 2021-08-20 | criteria provided, single submitter | clinical testing | The c.381_383delTAG variant (also known as p.S127del) is located in coding exon 2 of the ALMS1 gene. This variant results from an in-frame TAG deletion at nucleotide positions 381 to 383. This results in the in-frame deletion of a serine at codon 127. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000666405 | SCV003523528 | uncertain significance | Alstrom syndrome | 2022-08-06 | criteria provided, single submitter | clinical testing | This variant, c.381_383del, results in the deletion of 1 amino acid(s) of the ALMS1 protein (p.Ser127del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760942576, gnomAD 0.004%). 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: 551364). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |