ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) (rs1553950970)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000677623 SCV000803668 uncertain significance Neuronal ceroid lipofuscinosis 7 2018-08-13 no assertion criteria provided clinical testing The observed variant c.268G>C (p.Ala90Pro) has not been reported in 1000 Genomes and ExAC databases respectively. The In silico prediction of the given variant is disease causing by MutationTaster2, damaging by LRT and probably damaging by PolyPhen-2.

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