ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) (rs111737555)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147129 SCV000194489 uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 2014-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000522969 SCV000619888 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PCNT gene. The S2433P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S2433P variant is observed in 6/10382 (0.1%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S2433P 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 in mammals. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, 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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