Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002347906 | SCV002650574 | benign | Cardiovascular phenotype | 2021-08-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479075 | SCV004223470 | likely benign | not specified | 2023-11-07 | criteria provided, single submitter | clinical testing | Variant summary: ALMS1 c.57_74dup18 (p.Glu23_Glu28dup) results in an in-frame duplication that is predicted to duplicate 6 amino acids into the ALMS repeat region/Glu repetitive region (Glu13_Glu28) of the encoded protein. The variant was absent in 83366 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.57_74dup18 in individuals affected with Alstrom Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Other duplication variants located in this Glu repetitive region (examples: c.54_74dup21/p.Glu22_Glu28dup, c.60_74dup15/p.Glu24_Glu28dup) have been classified as likely benign by our laboratory. Furthermore, there are no reports of other variants in this Glu repetitive region in the HGMD database. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as as likely benign. |
Natera, |
RCV000230361 | SCV002080369 | uncertain significance | Alstrom syndrome | 2019-11-01 | no assertion criteria provided | clinical testing |