ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) (rs80133984)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228750 SCV000290079 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001705276 SCV000531701 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430379 SCV000864087 benign not specified 2018-07-30 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.2655A>G (alternative c.2661A>G) alters a non-conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 0.00081 in 276666 control chromosomes, and was predominantly within the African subpopulation in the gnomAD database at a frequency of 0.0084, including 2 homozygotes. The observed variant frequency within African control individuals is approximately 3.8-fold above 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 origin. To our knowledge, no occurrence of c.2655A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705276 SCV001977856 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001705276 SCV001979210 likely benign not provided no assertion criteria provided clinical testing

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