ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) (rs55889738)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232022 SCV000290100 benign Alstrom syndrome 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001697264 SCV000714831 benign not provided 2019-04-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608771 SCV000864081 benign not specified 2020-08-17 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.60_74del15 (p.Glu24_Glu28del) results in an in-frame deletion that is predicted to remove 5 amino acids in a Glu repeat polymorphic region. The variant allele was found at a frequency of 0.012 in 27198 control chromosomes, predominantly at a frequency of 0.039 within the African or African-American subpopulation in the gnomAD database, including 8 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 17 fold of the estimated maximal expected allele frequency for a pathogenic variant in ALMS1 causing Cardiomyopathy phenotype (0.0022), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.
Clinical Genetics,Academic Medical Center RCV001697264 SCV001920824 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001697264 SCV001954469 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001697264 SCV001978347 likely benign not provided no assertion criteria provided clinical testing

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