ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys)

gnomAD frequency: 0.00034  dbSNP: rs141865220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001885431 SCV002107239 uncertain significance not provided 2022-03-17 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; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001885431 SCV002260906 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing

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