ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)

dbSNP: rs137854561
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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 RCV002354144 SCV002655339 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-26 criteria provided, single submitter clinical testing The p.L2067P variant (also known as c.6200T>C), located in coding exon 41 of the NF1 gene, results from a T to C substitution at nucleotide position 6200. The leucine at codon 2067 is replaced by proline, an amino acid with similar properties. This alteration was identified in an individual with at least two neurofibromas. Functional studies showed neurofibromin level in the patient's fibroblast was reduced to 51.9% +/- 5.4% of the control cells (Kaufmann D et al. Am J Hum Genet, 2001 Dec;69:1395-400). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
OMIM RCV000000386 SCV000020530 pathogenic Neurofibromatosis, familial spinal 2001-12-01 no assertion criteria provided literature only

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