ClinVar Miner

Submissions for variant NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003126310 SCV003802748 uncertain significance Lipoyl transferase 1 deficiency 2023-01-25 criteria provided, single submitter clinical testing The c.578T>C variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. The variant has neither been published in literature nor reported to clinical databases like in ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these were not confirmed by published functional studies.

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