ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) (rs35686968)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117763 SCV000152020 uncertain significance not provided 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000250977 SCV000307367 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250977 SCV000519544 benign not specified 2016-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000552723 SCV000640823 benign Nemaline myopathy 2 2017-08-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000250977 SCV000917877 benign not specified 2018-08-06 criteria provided, single submitter clinical testing Variant summary: NEB c.571G>C (p.Glu191Gln) results in a conservative amino acid change located in the Nebulin repeat region of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.016 in 276052 control chromosomes in the gnomAD database, including 81 homozygotes. The observed variant frequency is approximately 4.65 fold of the estimated maximal expected allele frequency for a pathogenic variant in NEB causing Nemaline Myopathy 2 phenotype (0.0035), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.571G>C in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cites variant as "benign." Based on the evidence outlined above, the variant was classified as benign.

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