ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) (rs757586383)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562953 SCV000674145 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-04 criteria provided, single submitter clinical testing The p.D567N variant (also known as c.1699G>A), located in coding exon 15 of the NF2 gene, results from a G to A substitution at nucleotide position 1699. The aspartic acid at codon 567 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000693900 SCV000822323 uncertain significance Neurofibromatosis, type 2 2020-10-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 567 of the NF2 protein (p.Asp567Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs757586383, ExAC 0.006%). This variant has not been reported in the literature in individuals with NF2-related disease. ClinVar contains an entry for this variant (Variation ID: 485981). 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.
Mendelics RCV000693900 SCV000839527 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing

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