ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6143G>A (p.Ser2048Asn)

dbSNP: rs2151553604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897550 SCV002150463 uncertain significance Neurofibromatosis, type 1 2021-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 2027 of the NF1 protein (p.Ser2027Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant has not been reported in the literature in individuals affected with NF1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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