ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)

gnomAD frequency: 0.00003  dbSNP: rs779727341
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234251 SCV000284391 likely benign Neurofibromatosis, type 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311333 SCV000662949 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-10-20 criteria provided, single submitter clinical testing The p.G57S variant (also known as c.169G>A), located in coding exon 2 of the NF1 gene, results from a G to A substitution at nucleotide position 169. The glycine at codon 57 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000234251 SCV000781861 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765342 SCV000896606 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV003491998 SCV001140333 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996514 SCV001151252 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000996514 SCV002008411 uncertain significance not provided 2023-09-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36373817)
Sema4, Sema4 RCV000564586 SCV002527411 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-22 criteria provided, single submitter curation
Genome-Nilou Lab RCV000234251 SCV002561414 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000996514 SCV002774827 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547596 SCV004115834 uncertain significance NF1-related disorder 2022-09-01 criteria provided, single submitter clinical testing The NF1 c.169G>A variant is predicted to result in the amino acid substitution p.Gly57Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-29483109-G-A). It is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/237522/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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