ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Gazi University RCV003315216 SCV004014046 likely pathogenic Neurofibromatosis, type 1 2023-07-18 criteria provided, single submitter clinical testing This variant was observed in a heterozygous state in our patient who was referred to our clinic with a plexiform neurofibroma and multiple café-au-lait lesions on the skin. The variant is predicted to lead to protein truncation or nonsense-mediated decay in the NF1 gene. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in large, multi-ethnic general populations (GnomAD). Thus this variant classified as likely pathogenic.

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