ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5029A>T (p.Thr1677Ser) (rs876659017)

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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 RCV000215963 SCV000274967 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000632408 SCV000753587 uncertain significance Neurofibromatosis, type 1 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1677 of the NF1 protein (p.Thr1677Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 231197). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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