ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6532C>T (p.Arg2178Trp) (rs1057517707)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414248 SCV000490420 likely pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing The R2178W variant in the ATRX gene has been reported in multiple unrelated individuals withsyndromic intellectual disability (Giuliano et al., 2005; Badens et al., 2006; Lee et al., 2015). TheR2178W variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The R2178W variant is a non-conservative amino acid substitutionwhich occurs at a position that is conserved across species and in silico analysis predicts this variant isprobably damaging to the protein structure/function. The R2178W variant is a strong candidate for apathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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