ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)

dbSNP: rs371817372
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132074 SCV000187138 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-11 criteria provided, single submitter clinical testing The p.G672V variant (also known as c.2015G>T), located in coding exon 18 of the NF1 gene, results from a G to T substitution at nucleotide position 2015. The glycine at codon 672 is replaced by valine, an amino acid with dissimilar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in0.01% (1/8600) European American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.G672V remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000476573 SCV000542130 benign Neurofibromatosis, type 1 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476573 SCV002561979 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415624 SCV002723669 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-24 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.
GeneDx RCV002464122 SCV002759242 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)
Baylor Genetics RCV003462030 SCV004198406 uncertain significance Juvenile myelomonocytic leukemia 2023-07-21 criteria provided, single submitter clinical testing

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