ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) (rs199474793)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222408 SCV000273712 uncertain significance Hereditary cancer-predisposing syndrome 2015-02-04 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV000234372 SCV000284517 uncertain significance Neurofibromatosis, type 1 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 2610 of the NF1 protein (p.Thr2610Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant was reported in an individual affected with neurofibromatosis type I (PMID: 8544190) and an individual affected with multiple endocrine neoplasia, type 2A (MEN2A) (PMID: 24694336). This variant is also referred to as c.7891A>G (p.Thr2631Ala) in the literature. ClinVar contains an entry for this variant (Variation ID: 68363). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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. 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.
Fulgent Genetics,Fulgent Genetics RCV000764118 SCV000895086 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059217 SCV000090746 not provided not provided no assertion provided not provided

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