ClinVar Miner

Submissions for variant NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001293369 SCV001481819 pathogenic Intellectual disability 2021-02-25 criteria provided, single submitter clinical testing The variant chr14:g.(88429727_88417093)_(88399358_86089631)del, GALC(NM_000153.4):c.(1161+1_1162-1)_(*1718_?)del,p.? was identified in an individual with NDD + Epilepsy. Inheritance was paternal (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Pathogenic (criteria: PSV1_VeryStrong, PM2_Supporting, PM3_Moderate). This variant was identified in a compound heterozygous state with the variant NM_000153.4(GALC):c.1185dup (p.Arg396fs)(Variation ID: 976185).

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