ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys)

gnomAD frequency: 0.00001  dbSNP: rs771089333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547070 SCV000628342 likely benign Neurofibromatosis, type 1 2024-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358450 SCV002655220 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-16 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.
GeneDx RCV004719852 SCV005325939 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005018907 SCV005647004 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-03-01 criteria provided, single submitter clinical testing

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