ClinVar Miner

Submissions for variant NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly)

gnomAD frequency: 0.17028  dbSNP: rs1801252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600843 SCV000721504 likely benign not specified 2018-03-09 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.
Breakthrough Genomics, Breakthrough Genomics RCV004706447 SCV005220199 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000019323 SCV000039613 association Resting heart rate 2015-05-18 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974845 SCV004790797 benign ADRB1-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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