ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser)

dbSNP: rs2067766672
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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 RCV001298486 SCV001487544 uncertain significance Neurofibromatosis, type 1 2020-07-19 criteria provided, single submitter clinical testing 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. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 1582 of the NF1 protein (p.Asn1582Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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