ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) (rs78592085)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724204 SCV000226194 uncertain significance not provided 2014-11-20 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202808 SCV000257875 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202808 SCV000307331 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286754 SCV000416806 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000202808 SCV000491010 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing The T8491M variants in the NEB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not present in the homozygous state, the NHLBI Exome Sequencing Project reports T8491M was observed in 22/8232 (0.3%) alleles from individuals of European American background and the 1000 Genomes Project reports this variant was observed in 2/214 (0.9%) alleles from individuals of Italian ancestry, indicating it may be a rare variant in these populations. The T8491M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T8491M as a variant of uncertain significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415163 SCV000492765 uncertain significance Congenital muscular dystrophy; Muscle weakness 2014-05-21 criteria provided, single submitter clinical testing
Invitae RCV000724204 SCV000640756 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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