ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.955A>G (p.Ile319Val) (rs977358021)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440703 SCV000532180 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing The I385V variant in the PTCH1 gene has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. This variant occurs at a position where amino acids with properties similar to Isoleucine are tolerated across species and is located within the extracellular topological domain (Uniprot). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether I385V is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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