ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro)

dbSNP: rs1579542647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797743 SCV000937322 uncertain significance Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1077 of the TERT protein (p.Ala1077Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TERT-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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