ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.544A>T (p.Thr182Ser) (rs878855305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230874 SCV000291880 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 182 of the TERT protein (p.Thr182Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TERT-related disease. ClinVar contains an entry for this variant (Variation ID: 242243). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on TERT function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000788746 SCV000927971 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509110 SCV000606890 not provided TERT-associated disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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