ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7175del (p.Gly2392fs)

dbSNP: rs2069870034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University RCV001290984 SCV001429656 likely pathogenic Neurofibromatosis, type 1 2019-06-01 criteria provided, single submitter clinical testing We report a novel frameshift mutation (c.7112delG) in the NF1 gene segregated with NF1 patients in a three-generation family. The patients in this pedigree were characterized by scoliosis and osteoporosis, informing the hypothesis that the c.7112delG mutation in the NF1 gene causes bone formation disorder that further induces scoliosis and osteoporosis.

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