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
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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724204 SCV000226194 uncertain significance not provided 2014-11-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000286754 SCV000416806 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535855 SCV000640756 likely benign Nemaline myopathy 2 2017-10-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000202808 SCV000307331 likely benign not specified criteria provided, single submitter clinical testing

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