ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2364A>G (p.Thr788=)

gnomAD frequency: 0.00001  dbSNP: rs1240233000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875891 SCV001018375 likely benign Neurofibromatosis, type 1 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559752 SCV005047556 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-07-27 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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