ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.867C>T (p.Leu289=) (rs778138282)

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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 RCV000222641 SCV000277419 likely benign Hereditary cancer-predisposing syndrome 2015-07-26 criteria provided, single submitter clinical testing
Color RCV000222641 SCV000686779 likely benign Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587591 SCV000697453 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing Variant summary: The TP53 c.867C>T (p.Leu289Leu) 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. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121332 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398). This variant has been reported in multiple tumor samples possibly as a somatic variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign (germline). Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000230171 SCV000285214 likely benign Li-Fraumeni syndrome 2017-12-31 criteria provided, single submitter clinical testing

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