ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)

dbSNP: rs878853897
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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 RCV000229153 SCV000284467 likely benign Neurofibromatosis, type 1 2024-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317752 SCV000670541 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-07-18 criteria provided, single submitter clinical testing The p.W1491C variant (also known as c.4473G>C), located in coding exon 33 of the NF1 gene, results from a G to C substitution at nucleotide position 4473. The tryptophan at codon 1491 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000229153 SCV002560442 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003322763 SCV004028390 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29617658, 22807134)
Baylor Genetics RCV003463651 SCV004198371 uncertain significance Juvenile myelomonocytic leukemia 2023-08-13 criteria provided, single submitter clinical testing

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