ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)

gnomAD frequency: 0.00001  dbSNP: rs769941435
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556844 SCV000628506 likely benign Neurofibromatosis, type 1 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314929 SCV000663135 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-07-15 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.
Genetic Services Laboratory, University of Chicago RCV001821506 SCV002071383 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing DNA sequence analysis of the NF1 gene demonstrated a sequence change, c.3242C>G, in exon 25 that results in an amino acid change, p.Ala1081Gly. This sequence change does not appear to have been previously described in patients with NF1-related disorders and has been described in the gnomAD database with a low population frequency of 0.0020% (dbSNP rs769941435). The p.Ala1081Gly 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.Ala1081Gly substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Ala1081Gly change remains unknown at this time.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000135 SCV005624565 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005018909 SCV005646729 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-03-07 criteria provided, single submitter clinical testing

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