ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11872+18G>A (rs139647347)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424257 SCV000529353 benign not specified 2016-10-11 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514668 SCV000610541 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424257 SCV001338983 benign not specified 2020-03-30 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.11869+18G>A alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0052 in 245654 control chromosomes in the gnomAD database, including 8 homozygotes. The observed variant frequency is approximately 2.34 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 benign. To our knowledge, no occurrence of c.11869+18G>A 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. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV001521079 SCV001730337 benign Alstrom syndrome 2020-12-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000424257 SCV001920322 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000424257 SCV001959622 benign not specified no assertion criteria provided clinical testing

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