ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.553C>T (p.Arg185Trp)

gnomAD frequency: 0.00004  dbSNP: rs770436206
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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 RCV002544769 SCV000814645 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559353 SCV002648765 likely benign Dyskeratosis congenita 2019-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Neuberg Centre For Genomic Medicine, NCGM RCV003388593 SCV004100591 uncertain significance Dyskeratosis congenita, autosomal dominant 2 criteria provided, single submitter clinical testing The missense variant p.R185W in TERT (NM_198253.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It has been submitted to ClinVar as Uncertain Significance. There is a moderate physicochemical difference between arginine and tryptophan. The p.R185W missense variant is predicted to be tolerated by both SIFT or PolyPhen2. The nucleotide c.553 in TERT is not conserved according to a GERP++ and PhyloP analysis of 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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