ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup)

dbSNP: rs55889738
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Total submissions: 3
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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, LabCorp 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, Inc. RCV000230361 SCV002080369 uncertain significance Alstrom syndrome 2019-11-01 no assertion criteria provided clinical testing

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