ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1951G>C (p.Ala651Pro)

dbSNP: rs1579576105
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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 RCV002534758 SCV000943525 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 651 of the TERT protein (p.Ala651Pro). This variant is not present in population databases (gnomAD no frequency). 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: 648836). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004559677 SCV005049086 uncertain significance Dyskeratosis congenita 2023-07-05 criteria provided, single submitter clinical testing The p.A651P variant (also known as c.1951G>C) is located in coding exon 5 of the TERT gene. The alanine at codon 651 is replaced by proline, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 5. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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