ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.235T>C (p.Leu79=)

gnomAD frequency: 0.00001  dbSNP: rs764855221
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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 RCV000216983 SCV000277732 likely benign Hereditary cancer-predisposing syndrome 2015-08-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000464568 SCV000554983 likely benign Neurofibromatosis, type 1 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000614768 SCV000727314 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000464568 SCV002560188 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547557 SCV004786768 likely benign NF1-related disorder 2023-02-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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