ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)

gnomAD frequency: 0.00009  dbSNP: rs201330213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525586 SCV000551521 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1055 of the TERT protein (p.Ser1055Leu). This variant is present in population databases (rs201330213, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 410673). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001753902 SCV002007191 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Identified in an individual with common variable immunodeficiency (PMID: 37944684); This variant is associated with the following publications: (PMID: 37944684)
Baylor Genetics RCV003470475 SCV004208105 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-07 criteria provided, single submitter clinical testing

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