ClinVar Miner

Submissions for variant NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)

gnomAD frequency: 0.00001  dbSNP: rs773847949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330934 SCV001522793 uncertain significance Sideroblastic anemia 3 2020-07-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003319465 SCV004023696 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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