ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)

gnomAD frequency: 0.00001  dbSNP: rs764291252
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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 RCV000465912 SCV000542240 likely benign Neurofibromatosis, type 1 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000482669 SCV000570039 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer, but also in unaffected controls (Momozawa et al., 2018; Dorling et al., 2021); This variant is associated with the following publications: (PMID: 33471991, 29089047, 30287823)
Ambry Genetics RCV002311768 SCV000663018 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-05-26 criteria provided, single submitter clinical testing The c.5888A>G (p.N1963S) alteration is located in exon 39 (coding exon 39) of the NF1 gene. This alteration results from a A to G substitution at nucleotide position 5888, causing the asparagine (N) at amino acid position 1963 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV000482669 SCV001879400 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482669 SCV002046137 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000465912 SCV002560922 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551515 SCV004751502 uncertain significance NF1-related disorder 2023-12-05 no assertion criteria provided clinical testing The NF1 c.5951A>G variant is predicted to result in the amino acid substitution p.Asn1984Ser. This variant has been reported in the literature as a variant of uncertain significance in patients with cancers (specifically breast and biliary tract cancers; Momozawa et al. 2018. PubMed ID: 30287823; Okawa et al. 2023. PubMed ID: 36243179; alternate nomenclature: NM_000267.3:c.5888A>G (p.Asn1963Ser)). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. In ClinVar this variant is classified as uncertain significance by multiple labs. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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