ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.295A>C (p.Lys99Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230333 SCV003928109 uncertain significance Neurofibromatosis, type 1 2023-04-14 criteria provided, single submitter clinical testing The NF1 c.295A>C (p.Lys99Gln) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 1. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999909 SCV005624552 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing

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