ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.129A>C (p.Leu43=)

gnomAD frequency: 0.00003  dbSNP: rs759576680
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000200434 SCV000253200 likely benign Neurofibromatosis, type 1 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000222562 SCV000273048 likely benign Hereditary cancer-predisposing syndrome 2014-11-21 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.
GeneDx RCV001589073 SCV001822711 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000222562 SCV002527389 likely benign Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation
Genome-Nilou Lab RCV000200434 SCV002561001 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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