ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)

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
GeneDx RCV001711640 SCV000572505 likely benign not provided 2022-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000487223 SCV001623160 uncertain significance not specified 2021-05-17 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.57_74del18 (p.Glu23_Glu28del) results in an in-frame deletion that is predicted to remove six amino acids from the repeat region of 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_74del18 in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One co-occurrence with another pathogenic variant has been reported internally (MYBPC3 c.1227-13G>A), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002347905 SCV002647558 benign Cardiovascular phenotype 2020-05-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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