ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003023648 SCV003320925 likely benign Neurofibromatosis, type 1 2023-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004560005 SCV005048662 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-03 criteria provided, single submitter clinical testing The c.6601_6602delACinsGT variant, located in coding exon 43 of the NF1 gene, results from an in-frame deletion of AC and insertion of GT at nucleotide positions 6601 to 6602. This results in the substitution of the threonine residue for a valine residue at codon 2201, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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