ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) (rs115517108)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082985 SCV000262082 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224703 SCV000281153 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445406 SCV000536968 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.017 + 5 predictors, not using PP3/4 predictors), BA1 (5.7% in gnomAD African), BS2 (46 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating)= benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000418663 SCV000966251 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Thr1384Arg in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 5.85% (573/9792) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs115517108).
Athena Diagnostics Inc RCV000224703 SCV001143001 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000418663 SCV000529347 benign not specified 2016-10-11 no assertion criteria provided 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.

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