ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)

gnomAD frequency: 0.00002  dbSNP: rs766896025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163528 SCV000214086 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000200538 SCV000254497 likely benign Neurofibromatosis, type 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001553416 SCV001774278 uncertain significance not provided 2021-10-28 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Identified in unaffected controls, but not in any cases in a breast cancer study (Momozawa 2018); This variant is associated with the following publications: (PMID: 30287823)
Sema4, Sema4 RCV000163528 SCV002527533 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter curation

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