ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5690A>G (p.Asn1897Ser) (rs534249104)

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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 RCV000166441 SCV000217236 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-23 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 RCV000206068 SCV000261477 uncertain significance Neurofibromatosis, type 1 2015-10-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1897 of the NF1 protein (p.Asn1897Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 186792). 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 is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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