ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.161C>T (p.Ser54Leu)

dbSNP: rs727502766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003153434 SCV003842423 pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Niceta et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25865493, 33528093, 31328266, 31600839)
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000149902 SCV000196753 pathogenic Ayme-Gripp syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000149902 SCV000223822 pathogenic Ayme-Gripp syndrome 2015-05-07 no assertion criteria provided literature only

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