ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) (rs762308378)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326425 SCV000395364 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000916250 SCV001061485 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000326425 SCV001345232 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000916250 SCV001473514 uncertain significance Aortic aneurysm, familial thoracic 4 2020-04-14 criteria provided, single submitter clinical testing The MYH11 c.2665A>C; p.Lys889Gln variant (rs762308378) is reported in the literature in an individual affected with thoracic aortic aneurysm (Prapa 2013). This variant is reported in ClinVar (Variation ID: 318164), and is found in the South Asian population with an allele frequency of 0.23% (71/30616 alleles, including a single homozygote) in the Genome Aggregation Database. The lysine at codon 889 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. While the high population frequency in South Asians suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of the p.Lys889Gln variant is uncertain at this time. References: Prapa S. Bicuspid aortic valve and associated aortopathy: a combined biomechanics, histological and genetic analysis. PhD thesis, Imperial College London, London. 2013.

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