ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)

gnomAD frequency: 0.00004  dbSNP: rs374472758
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527707 SCV000628512 benign Neurofibromatosis, type 1 2024-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764107 SCV000895075 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448634 SCV001181553 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-12-06 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 RCV001574886 SCV001801773 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28977029, 25486365, 2121369)
Sema4, Sema4 RCV001020116 SCV002527503 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001574886 SCV005624568 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing

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