ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2061A>G (p.Leu687=)

gnomAD frequency: 0.00001  dbSNP: rs143671377
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078833 SCV000253204 likely benign Neurofibromatosis, type 1 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000223002 SCV000273898 likely benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615800 SCV000711558 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.Leu687Leu in exon 18 of NF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/66690 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org/; dbSNP rs143671377).
GeneDx RCV000681392 SCV000808855 likely benign not provided 2018-06-20 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 Diagnostics Laboratory, The Hospital for Sick Children RCV001078833 SCV001479200 likely benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000223002 SCV002527444 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
Genome-Nilou Lab RCV001078833 SCV002561643 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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