ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5497C>T (p.Leu1833=)

gnomAD frequency: 0.00008  dbSNP: rs372932380
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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 RCV000204859 SCV000259758 likely benign Neurofibromatosis, type 1 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563495 SCV000666755 likely benign Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV001575922 SCV001803013 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000204859 SCV002560827 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345732 SCV002652236 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2016-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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