ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5574A>G (p.Ala1858=)

gnomAD frequency: 0.00002  dbSNP: rs760561904
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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 RCV000473542 SCV000554950 likely benign Neurofibromatosis, type 1 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563397 SCV000662909 likely benign Hereditary cancer-predisposing syndrome 2015-04-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586902 SCV000696399 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001533943 SCV001750823 likely benign not provided 2020-09-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10980545)
Genome-Nilou Lab RCV000473542 SCV002560834 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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