ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.206C>G (p.Ser69Trp)

dbSNP: rs769028551
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481891 SCV000574018 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TPP1 gene. The S69W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S69W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S69W 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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