ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) (rs34071195)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082556 SCV000262079 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000424086 SCV000532098 benign not specified 2016-10-10 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445470 SCV000536989 benign Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: BA1 (6% in Africans in gnomAD), BS2 (41 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease)= benign; REVEL 0.068 + PP3/5 predictors + BP4/4 predictors
Athena Diagnostics Inc RCV000710528 SCV000840767 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000424086 SCV000967041 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys3434Glu in exon 15 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 5.77% (565/9788) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34071195).

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