ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7030_7031insAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAA (p.His2343_Thr2344insLysAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysValSerLysLeuCysLeuGluValProArgLeuLeuLysPheSerThrXaaXaaXaaXaaXaaXaaLysLysLysLysLys)

dbSNP: rs2151561896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383875 SCV001583189 pathogenic Neurofibromatosis, type 1 2018-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018). Although this variant has not been reported in the literature, loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538) and other Alu-mediated insertions in NF1 have been reported in the literature (PMID: 1719426, 22125493 ). This sequence change is an Alu-mediated insertion in exon 46 of the NF1 mRNA (c.6967_6968insAlu) causing a frameshift at codon 2323 (p.Thr2323fs), The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product.

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