ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1960C>G (p.Pro654Ala)

dbSNP: rs765281937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068450 SCV001233562 uncertain significance Neurofibromatosis, type 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 654 of the NF1 protein (p.Pro654Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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