ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) (rs777858863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632642 SCV000753827 uncertain significance Neurofibromatosis, type 2 2020-10-27 criteria provided, single submitter clinical testing This variant, c.243_248delACTGGA, results in the deletion of 2 amino acids of the NF2 protein (p.Leu82_Asp83del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777858863, ExAC 0.009%). This variant has not been reported in the literature in individuals with NF2-related disease. ClinVar contains an entry for this variant (Variation ID: 527697). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.
Ambry Genetics RCV001015508 SCV001176350 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing The c.243_248delACTGGA variant (also known as p.L82_D83del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACTGGA deletion at nucleotide positions 243 to 248. This results in the in-frame deletion of leucine and aspartic acid at codons 82 and 83. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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