ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4095C>T (p.Cys1365=) (rs1060503922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000681107 SCV000554981 likely benign not provided 2018-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000681107 SCV000808564 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing This variant is denoted NF1 c.4095C>T at the DNA level. It is silent at the coding level, preserving a Cysteine at codon 1365. In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NF1 c.4095C>T was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether NF1 c.4095C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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