ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001172444 SCV001252700 likely pathogenic Macrocytic anemia; Premature graying of hair; Interstitial pulmonary abnormality; Short telomere length 2020-05-18 criteria provided, single submitter clinical testing This heterozygous variant was found in germline in a patient with ILD/UIP diagnosed at age 48. The telomere length was below the 1st percentile in lymphocytes. The patient also displayed other phenotypic features such as early greying and macrocytic anemia. The following ACMG/AMP criteria were used: PS4_moderate, PM2, PP2, PP3.

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