ClinVar Miner

Submissions for variant NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) (rs199868951)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618530 SCV000736050 benign Cardiovascular phenotype 2016-10-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770272 SCV000901704 likely benign Cardiomyopathy 2017-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000036993 SCV000236303 benign not specified 2018-01-16 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.
Illumina Clinical Services Laboratory,Illumina RCV000262337 SCV000360334 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469728 SCV000562784 benign Dilated cardiomyopathy 1DD 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036993 SCV000060649 likely benign not specified 2012-12-11 criteria provided, single submitter clinical testing Ala150Thr in exon 2 of RBM20: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 14 mammals have a Threonine (Thr; this variant) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the protein. In addition, this variant has been identified in 3/3182 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000036993 SCV000280435 uncertain significance not specified 2013-01-26 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Ala150Thr (c.448 G>A, A150T) in the RBM20 gene The variant has not been reported in association with disease. In silico analysis with PolyPhen-2 predicts the variant to be benign. The alanine at codon 150 is not conserved across species, and is in fact a threonine in some species, including mammals. Mutation taster predicts the variant to be benign. In total the variant has not been seen in 5 of ~2,579 published controls and individuals from publicly available population datasets. The variant is reported online in 3 of 1591 Caucasian individuals and 1 of 692 African-American individuals in the NHLBI Exome Sequencing Project dataset (as of January 27th, 2013). The phenotype of those individuals is not publicly available, however the cohorts that were merged to create this dataset were all either general population samples or samples recruited for common cardiovascular disease such as hypertension. The variant is listed in dbSNP (rs199868951), which refers to the NHLBI data and data from ClinSeq. In ClinSeq it was observed in 1 of 296 individuals; this cohort approximates a general population sample (with respect to Mendelian disease). It is listed in 1000 genomes but only in reference to the dbSNP entry (as of January 27th, 2013).

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