ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.3543C>A (p.Tyr1181Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital RCV004799716 SCV005414521 pathogenic Infantile liver failure 2024-10-01 criteria provided, single submitter clinical testing PVS1: Null variant in a gene where loss of function is a known mechanism of disease PM3: For recessive disorders, detected in trans with a pathogenic variant (NM_015909.4(NBAS):c.3596G>A p.(Cys1199Tyr)) in this patient (1 point) PM2_Supporting: Absent from gnomAD population databases

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