ClinVar Miner

Submissions for variant NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) (rs767713084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210733 SCV000262928 pathogenic Inborn genetic diseases 2013-09-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000442926 SCV000858149 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000442926 SCV000525073 likely pathogenic not provided 2016-07-05 criteria provided, single submitter clinical testing The R527W variant in the ELP2 gene has been reported previously as a likely pathogenic variant, in the compound heterozygous state opposite a second ELP2 variant, in two brothers with severe intellectual disability, spastic diplegia, truncal hypotonia, and self-injurious behavior (Cohen et al., 2015). In addition, a different amino acid change at the same residue (R527L), denoted as R426L due to alternative nomenclature, has been reported to be homozygous in a consanguineous family with nonsyndromic intellectual disability (Najmabadi et al., 2011). The R527W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R527W 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. The R527W variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000415555 SCV000493998 pathogenic Mental retardation, autosomal recessive 58 2011-09-21 no assertion criteria provided literature only

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