ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) (rs148154172)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130730 SCV000185621 likely benign Hereditary cancer-predisposing syndrome 2015-12-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034590 SCV000043394 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000034590 SCV000570150 benign not provided 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000480111 SCV000917888 likely benign not specified 2018-07-31 criteria provided, single submitter clinical testing Variant summary: NF1 c.7532C>T (p.Ala2511Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00073 in 276854 control chromosomes (gnomAD). The observed variant frequency is approximately 3.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 phenotype (0.00021), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.7532C>T in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cite the variant as "benign/likely benign." Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000199269 SCV000253228 benign Neurofibromatosis, type 1 2018-01-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000480111 SCV000967009 benign not specified 2018-04-06 criteria provided, single submitter clinical testing p.Ala2532Val in exon 51 of NF1: This variant is classified as benign because it has been identified in 0.93% (94/10136) of Ashkenazi Jewish chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs14 8154172). ACMG/AMP Criteria applied (Richards 2015): BA1.
PreventionGenetics RCV000480111 SCV000806319 benign not specified 2015-09-18 criteria provided, single submitter clinical testing

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