ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)

dbSNP: rs312262903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489545 SCV000577221 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing The T529I variant has been published in patients diagnosed with Pseudoachondroplasia with limited evidence for pathogenicity (Kennedy et al. 2005; Jackson et al., 2012; Kennedy et al. 2005). The T529I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T529I 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GeneReviews RCV000033882 SCV000057790 not provided Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome no assertion provided literature only

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