ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)

gnomAD frequency: 0.00001  dbSNP: rs758325102
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230362 SCV000284407 benign Neurofibromatosis, type 1 2024-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318964 SCV001175727 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-03 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.
Baylor Genetics RCV000230362 SCV001481345 uncertain significance Neurofibromatosis, type 1 2019-04-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000230362 SCV002562018 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480560 SCV004224332 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing BP4, PM2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586642 SCV005075824 uncertain significance not specified 2024-04-02 criteria provided, single submitter clinical testing Variant summary: NF1 c.2257G>A (p.Ala753Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250628 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2257G>A in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 237533). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005016617 SCV005646713 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-03-19 criteria provided, single submitter clinical testing

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