ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3970A>G (p.Thr1324Ala) (rs189522993)

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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 RCV000167072 SCV000217900 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000206332 SCV000259751 uncertain significance Neurofibromatosis, type 1 2018-03-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1324 of the NF1 protein (p.Thr1324Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs189522993, ExAC 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 187350). 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: "Probably 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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