ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.584A>G (p.Lys195Arg) (rs587778552)

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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 RCV000166667 SCV000217472 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign),Insufficient or conflicting evidence
GeneKor MSA RCV000166667 SCV000822099 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
ITMI RCV000121637 SCV000085835 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000691511 SCV000819294 uncertain significance Neurofibromatosis, type 1 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 195 of the NF1 protein (p.Lys195Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs587778552, ExAC 0.01%). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 134888). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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