ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1113C>T (p.Asn371=) (rs142459414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564489 SCV000674125 benign Hereditary cancer-predisposing syndrome 2017-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000232452 SCV000437752 likely benign Neurofibromatosis, type 2 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586100 SCV000696413 benign not provided 2016-05-13 criteria provided, single submitter clinical testing Variant summary: The NF2 c.1113C>T (p.Asn371Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts changes of binding motifs for RNA splicing enhancers. This variant was found in 112/121300 control chromosomes at a frequency of 0.0009233, which is approximately 49 times the estimated maximal expected allele frequency of a pathogenic NF2 variant (0.0000189), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000232452 SCV000284539 benign Neurofibromatosis, type 2 2018-01-13 criteria provided, single submitter clinical testing

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