ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)

dbSNP: rs1555533347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547384 SCV000628637 likely benign Neurofibromatosis, type 1 2024-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001770412 SCV002004264 uncertain significance not provided 2023-11-01 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; Observed as a germline variant in an individual with juvenile myelomonocytic leukemia in the published literature (PMID: 23832011); This variant is associated with the following publications: (PMID: 23832011, 36243179)
Genome-Nilou Lab RCV000547384 SCV002560497 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341272 SCV002643977 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-09-09 criteria provided, single submitter clinical testing The p.Y1657C variant (also known as c.4970A>G), located in coding exon 36 of the NF1 gene, results from an A to G substitution at nucleotide position 4970. The tyrosine at codon 1657 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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