ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)

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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 RCV003316891 SCV004015295 uncertain significance Developmental and epileptic encephalopathy, 36 2023-07-20 criteria provided, single submitter clinical testing The c.2T>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. This 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-2, MutationTaster2, CADD, Varsome etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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