ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)

dbSNP: rs878853892
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226925 SCV000284452 benign Neurofibromatosis, type 1 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311334 SCV000662887 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-08-04 criteria provided, single submitter clinical testing The c.4000G>A (p.E1334K) alteration is located in exon 30 (coding exon 30) of the NF1 gene. This alteration results from a G to A substitution at nucleotide position 4000, causing the glutamic acid (E) at amino acid position 1334 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000681004 SCV000808453 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); 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, 22807134)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000226925 SCV001479271 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569305 SCV002527548 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter curation
Genome-Nilou Lab RCV000226925 SCV002560359 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567716 SCV005052187 uncertain significance Juvenile myelomonocytic leukemia 2024-03-18 criteria provided, single submitter clinical testing

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