ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5318T>C (p.Val1773Ala) (rs142867979)

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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 RCV000167252 SCV000218092 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign)
Invitae RCV000528734 SCV000628658 uncertain significance Neurofibromatosis, type 1 2017-06-30 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1773 of the NF1 protein (p.Val1773Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs142867979, ExAC 0.003%). This variant has been reported in an individual affected with neurofibromatosis 1 (PMID: 25324867). ClinVar contains an entry for this variant (Variation ID: 187517). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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