ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.78_83del (p.Glu28_Glu29del) (rs754175473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455299 SCV000538277 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Integrated Genetics/Laboratory Corporation of America RCV000455299 SCV001339094 uncertain significance not specified 2020-03-30 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.75_80delAGAGGA (p.Glu27_Glu28del) results in an in-frame deletion that is predicted to remove two amino acids from the encoded protein. The variant was absent in 127964 control chromosomes. 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.75_80delAGAGGA in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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