ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) (rs749326764)

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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 RCV001012002 SCV001172400 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-21 criteria provided, single submitter clinical testing The p.D508N variant (also known as c.1522G>A), located in coding exon 14 of the NF2 gene, results from a G to A substitution at nucleotide position 1522. The aspartic acid at codon 508 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in 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 RCV001340322 SCV001534126 uncertain significance Neurofibromatosis, type 2 2020-04-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 508 of the NF2 protein (p.Asp508Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs749326764, ExAC 0.01%). This variant has not been reported in the literature in individuals with NF2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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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