ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1195_1210dup (p.Pro404fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genomics, Royal Prince Alfred Hospital RCV004801955 SCV005420272 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2024-12-04 criteria provided, single submitter clinical testing This variant is detected in a patient with pulmonary fibrosis with a strong family history. There is also evidence of myelodysplastic syndrome. This 16bp duplication leads to a premature termination codon, p.(Pro404Glnfs*140) and the transcript is expected to be subject to nonsense mediated decay. This variant has been observed at a very low frequency in control population database (variant allelic frequency 0.0002%, gnomAD v4.1.0).

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