ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1594G>A (p.Ala532Thr)

dbSNP: rs776459827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002534439 SCV000834522 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-08-07 criteria provided, single submitter clinical testing 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. 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 581635). This missense change has been observed in individual(s) with myelodysplastic syndrome (PMID: 34019641). This variant is present in population databases (rs776459827, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 532 of the TERT protein (p.Ala532Thr).
GeneDx RCV004723116 SCV005334401 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Functional studies demonstrate intermediate ability to elongate telomeres (PMID: 34019641); Observed in an individual with myelodysplastic syndrome; however, germline status was not confirmed (PMID: 34019641); This variant is associated with the following publications: (PMID: 34019641)

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