ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1739_1747delTCACCTTGC (rs1060503674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467386 SCV000553685 uncertain significance Neurofibromatosis, type 2 2020-07-24 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 16 of the NF2 mRNA (c.1739_1747delTCACCTTGC). This leads to the deletion of 3 amino acid residues in the NF2 protein (p.Leu580_Leu582del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF2-related disease. 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, this is a novel in-frame deletion of 3 amino acids with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001012929 SCV001173450 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-26 criteria provided, single submitter clinical testing The c.1739_1747delTCACCTTGC variant (also known as p.L580_L582del) is located in coding exon 16 of the NF2 gene. This variant results from an in-frame TCACCTTGC deletion at nucleotide positions 1739 to 1747. This results in the in-frame deletion of 3 amino acids between codons 580 and 582. These amino acid positions are highly 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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