ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) (rs78039319)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233437 SCV000290092 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000428195 SCV000524247 benign not specified 2016-12-05 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 RCV000445537 SCV000536973 benign Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.049 + 6 predictors; not using PP3 (2 predictors)), BP1 (missense when truncating cause ds), BS2 (18 homozygotes in gnomAD), BA1 (3.4% MAF in gnomAD African): Benign ( ALMS1 p.P2184S and p.K1810N are likely in LD)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000428195 SCV000711811 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys1810Asn in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.30% (320/9702) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs78039319).

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