ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) (rs1601583772)

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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 RCV001020335 SCV001181800 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-08 criteria provided, single submitter clinical testing The c.345_347delACA variant (also known as p.Q115del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACA deletion at nucleotide positions 345 to 347. This results in the in-frame deletion of a glutamine at codon 115. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001308325 SCV001497770 uncertain significance Neurofibromatosis, type 2 2020-03-04 criteria provided, single submitter clinical testing This variant, c.345_347del, results in the deletion of 1 amino acid(s) of the NF2 protein (p.Gln115del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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