ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.508G>A (p.Val170Met) (rs387907248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765805 SCV000897195 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000648883 SCV000770704 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-07-29 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 170 of the TERT protein (p.Val170Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs387907248, ExAC 0.004%). This variant has been reported in individual affected with aplastic anemia and pulmonary fibrosis and in individuals affected with pulmonary fibrosis (PMID: 21436073, 24833766). ClinVar contains an entry for this variant (Variation ID: 36947). Experimental studies have shown that this missense change decreases telomerase activity (PMID: 21436073). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000030628 SCV000053306 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2011-05-26 no assertion criteria provided literature only

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