ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) (rs587778554)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063079 SCV001227913 uncertain significance Neurofibromatosis, type 2 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 336 of the NF2 protein (p.Arg336Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. 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. ClinVar contains an entry for this variant (Variation ID: 134895). 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.
Illumina Clinical Services Laboratory,Illumina RCV001063079 SCV001310614 uncertain significance Neurofibromatosis, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001508929 SCV001715369 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing
ITMI RCV000121645 SCV000085843 not provided not specified 2013-09-19 no assertion provided reference population

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