ClinVar Miner

Submissions for variant NM_001927.4(DES):c.935A>C (p.Asp312Ala) (rs148947510)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037258 SCV000060915 likely benign not specified 2012-03-02 criteria provided, single submitter clinical testing p.Asp312Ala in exon 5 of DES: This variant is not expected to have clinical sign ificance because it has been identified in 0.3% (11/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs148947510).
GeneDx RCV000725547 SCV000235785 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing Identified in individuals with HCM, DCM, or sudden unexplained death in published literature (Mook et al., 2013; Pugh et al., 2014; Sanchez et al., 2016; van Lint et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 44275; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 17325244, 29926427, 27930701, 23785128, 24503780, 30847666)
Ambry Genetics RCV000243219 SCV000319576 likely benign Cardiovascular phenotype 2020-10-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725547 SCV000337681 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV001085666 SCV000562348 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725547 SCV001475075 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing

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