ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7711C>A (p.His2571Asn) (rs749460130)

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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 RCV000564087 SCV000663220 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-27 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001049026 SCV001213059 uncertain significance Neurofibromatosis, type 1 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 2571 of the NF1 protein (p.His2571Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs749460130, ExAC 0.01%). This variant has been observed in an individual with breast cancer as well as in healthy control individuals (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 480182). 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, but 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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