ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7582T>C (p.Ser2528Pro) (rs767458044)

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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 RCV000164391 SCV000215027 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000553260 SCV000628792 uncertain significance Neurofibromatosis, type 1 2018-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 2528 of the NF1 protein (p.Ser2528Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs767458044, ExAC 0.004%) but has not been reported in the literature in individuals with a NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 185037). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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