ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3197+3A>G (rs1359512152)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566366 SCV000670548 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000681288 SCV000808750 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is denoted NF1 c.3197+3A>G or IVS24+3A>G and consists of an A>G nucleotide substitution at the +3 position of intron 24 of the NF1 gene. In-silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether NF1 c.3197+3A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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