ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) (rs901502893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781630 SCV000919819 uncertain significance not specified 2018-11-19 criteria provided, single submitter clinical testing Variant summary: MYH11 c.5323C>G (p.Gln1775Glu) results in a conservative amino acid change located in the Myosin tail domain (IPR002928) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 30964 control chromosomes (gnomAD, Genomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5323C>G in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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