ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.5C>T (p.Thr2Met) (rs150314086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523694 SCV000619805 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing The T2M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T2M variant is observed in 2/10,388 alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The T2M 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 is inconsistent in its predictions as to whether or not the variant is 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.
Illumina Clinical Services Laboratory,Illumina RCV000268597 SCV000426810 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing

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