ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp)

dbSNP: rs1264511763
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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 RCV001346934 SCV001541169 likely pathogenic Neurofibromatosis, type 1 2021-04-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 2716 of the NF1 protein (p.Ala2716Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (Invitae). 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 expected to disrupt NF1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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