ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)

gnomAD frequency: 0.00007  dbSNP: rs545613984
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883354 SCV001026656 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001277142 SCV002535321 likely benign Dyskeratosis congenita 2020-04-28 criteria provided, single submitter curation
GeneDx RCV002284449 SCV002574433 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26109429)
Ambry Genetics RCV003169225 SCV003878513 likely benign Inborn genetic diseases 2023-02-15 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.
Natera, Inc. RCV001277142 SCV001463970 uncertain significance Dyskeratosis congenita 2020-02-13 no assertion criteria provided clinical testing

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