ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.173C>T (p.Thr58Ile)

dbSNP: rs727502769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254853 SCV000321865 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25865493, 12072800, 28482824, 36097645, 36477366, 34643041)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000254853 SCV001480149 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000149904 SCV000196755 pathogenic Ayme-Gripp syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000149904 SCV000223824 pathogenic Ayme-Gripp syndrome 2015-05-07 no assertion criteria provided literature only

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