ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.18A>G (p.Ser6=) (rs573130482)

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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 RCV000574896 SCV000675335 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000586224 SCV000697435 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The c.18A>G (p.Ser6=) in TP53 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control dataset of ExAC at a low frequency of 2.54e-05 (3/118110 chrs tested), predominantly in individuals of East Asian descent (0.00023; 2/8506 chrs tested). The latter frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.000046). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Likely Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possible Benign.
Invitae RCV000470573 SCV000557371 likely benign Li-Fraumeni syndrome 2017-09-12 criteria provided, single submitter clinical testing

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