ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1590G>C (p.Pro530=) (rs1396912668)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826056 SCV000967550 uncertain significance not specified 2018-08-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro530Pro var iant in TERT has not been previously reported in individuals with short telomere syndromes or pulmonary fibrosis but has been identified in 1/11090 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). The variant does not a lter an amino acid residue and is not located within the splice consensus sequen ce. In summary, while the clinical significance of the p.Pro530Pro variant is un certain, its predicted impact suggests that it is more likely to be benign. ACMG /AMP Criteria applied: BP7, PM2.
Invitae RCV000871987 SCV001013732 likely benign not provided 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV001455910 SCV001659680 likely benign Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 2020-03-05 criteria provided, single submitter clinical testing

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