ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)

dbSNP: rs1555534961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315704 SCV000663108 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-05 criteria provided, single submitter clinical testing The c.6742C>T (p.R2248C) alteration is located in exon 44 (coding exon 44) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 6742, causing the arginine (R) at amino acid position 2248 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000819969 SCV000960658 likely benign Neurofibromatosis, type 1 2024-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824832 SCV002074300 uncertain significance not specified 2022-01-16 criteria provided, single submitter clinical testing Variant summary: NF1 c.6742C>T (p.Arg2248Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251428 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6742C>T in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome-Nilou Lab RCV000819969 SCV002561000 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001824832 SCV004026726 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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