ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7717C>T (p.Arg2573Cys) (rs372787215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565103 SCV000663203 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-25 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001040889 SCV001204480 uncertain significance Neurofibromatosis, type 1 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2573 of the NF1 protein (p.Arg2573Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs372787215, ExAC 0.01%). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 480169). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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