ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) (rs144692954)

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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 RCV000621769 SCV000735219 benign Cardiovascular phenotype 2015-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437120 SCV000511484 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150183 SCV000344615 benign not specified 2016-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000437120 SCV000698274 benign not provided 2017-08-04 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.1138C>T (p.Pro380Ser) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 180/121378 control chromosomes (2 homozygotes) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.010959 (114/10402). This frequency is about 281 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Invitae RCV000230797 SCV000288294 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150183 SCV000197101 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro380Ser in Exon 04 of BAG3: This variant is not expected to have clinical significance because it has been identified in 1.0% (39/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144692954).
PreventionGenetics RCV000150183 SCV000310047 benign not specified criteria provided, single submitter clinical testing

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