ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)

gnomAD frequency: 0.00001  dbSNP: rs766496842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632279 SCV000753454 likely benign Neurofibromatosis, type 1 2023-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420689 SCV001188868 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-04-05 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.
Genetic Services Laboratory, University of Chicago RCV001821789 SCV002070040 uncertain significance not specified 2020-01-08 criteria provided, single submitter clinical testing DNA sequence analysis of the NF1 gene demonstrated a sequence change, c.7471G>A, in exon 50 that results in an amino acid change, p.Gly2491Ser. This sequence change has been described in the gnomAD database in three individuals (dbSNP rs766496842). The p.Gly2491Ser change has been identified in one individual with breast cancer (PMID: 30287823). The p.Gly2491Ser change affects a moderately conserved amino acid residue located in a domain of the NF1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly2491Ser substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Gly2491Ser change remains unknown at this time.
Genome-Nilou Lab RCV000632279 SCV002561104 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483787 SCV002804047 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-04 criteria provided, single submitter clinical testing

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