ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3197+1G>A (rs1555614653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598872 SCV000709953 likely pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing The c.3197+1G>A splice site variant in the NF1 gene has been previously reported in at least one individual with a clinical diagnosis of neurofibromatosis type 1 (Ars et al., 2000; Pros et al., 2008). This variant destroys the canonical splice donor site in intron 24, and is expected to cause abnormal gene splicing (Ars et al., 2000). The amino acids lots are within the GTPase activating protien domain (Xu et al., 1990; Luo et al., 2014). This variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider c.3197+1G>A to be a likely pathogenic variant.
Center for Human Genetics, Inc RCV000660028 SCV000781974 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing

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