ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) (rs55889738)

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Total submissions: 3
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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 RCV000608771 SCV000714831 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America 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.

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