ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) (rs760908992)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202728 SCV000257760 uncertain significance Aortic aneurysm, familial thoracic 4 2015-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757517 SCV000885771 uncertain significance not provided 2018-01-28 criteria provided, single submitter clinical testing The MYH11 c.5052C>G p.Ser1684Arg variant (rs760908992), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.001% (identified on 3 out of 246,262 chromosomes). The serine at position 1684 is highly conserved considering 13 species (Alamut software v.2.10.0) and computational analyses of the effects of the p.Ser1684Arg variant on protein structure and function predict an effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Based on all the available evidence, the clinical significance of the p.Ser1684Arg variant cannot be determined with certainty.
Color RCV001184303 SCV001350251 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-11-28 criteria provided, single submitter clinical testing

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