ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)

dbSNP: rs1465309384
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317237 SCV000670513 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-09 criteria provided, single submitter clinical testing The p.A1881V variant (also known as c.5642C>T), located in coding exon 38 of the NF1 gene, results from a C to T substitution at nucleotide position 5642. The alanine at codon 1881 is replaced by valine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632437 SCV000753618 likely benign Neurofibromatosis, type 1 2024-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000681199 SCV000808658 uncertain significance not provided 2023-10-09 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
Genome-Nilou Lab RCV000632437 SCV002560900 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569228 SCV005052318 uncertain significance Juvenile myelomonocytic leukemia 2023-11-29 criteria provided, single submitter clinical testing

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