ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) (rs775267348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517748 SCV000614321 pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000517748 SCV000617300 likely pathogenic not provided 2017-10-05 criteria provided, single submitter clinical testing The R207C variant in the NOTCH3 gene has been reported previously in 2 unrelated individuals with clinical features of CADASIL (Escary et al., 2000; Matsushima et al., 2017). The R207C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R207C 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 not conserved, however this variant is located within the EGF-like 5 domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R207C as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763039 SCV000893516 likely pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 2018-10-31 criteria provided, single submitter clinical testing

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