ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.567C>A (p.His189Gln)

dbSNP: rs747935528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002538019 SCV000939027 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559667 SCV002653891 uncertain significance Dyskeratosis congenita 2022-03-03 criteria provided, single submitter clinical testing The p.H189Q variant (also known as c.567C>A), located in coding exon 2 of the TERT gene, results from a C to A substitution at nucleotide position 567. The histidine at codon 189 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003332255 SCV004040436 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (Li et al., 2018); This variant is associated with the following publications: (PMID: 27149842, 29316957)
Fulgent Genetics, Fulgent Genetics RCV005047074 SCV005669173 uncertain significance Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 2024-02-21 criteria provided, single submitter clinical testing

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