ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp)

dbSNP: rs2069869918
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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 RCV001048205 SCV001212197 likely pathogenic Neurofibromatosis, type 1 2019-05-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed to segregate with neurofibromatosis type 1 in a family (PMID: 23954459). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with aspartic acid at codon 2370 of the NF1 protein (p.Val2370Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid.

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