ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.3803G>T (p.Arg1268Leu) (rs979889720)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520154 SCV000619981 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing The R1345L variant in the TCOF1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1345L 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret R1345L as a variant of uncertain significance.

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