ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer)

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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 RCV002465065 SCV002759460 pathogenic Neuronal ceroid lipofuscinosis 7 2022-09-19 criteria provided, single submitter clinical testing The c.742_746del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. The variant has neither been published nor reported to ClinVar, OMIM or HGMD, in any affected individuals. In silico pathogenicity prediction softwares like MutationTaster2, CADD, Varsome, Franklin etc. predicted this variant to be likely deleterious. The variant creates a premature stop signal at the 248th amino acid position of the transcript, which either leads to a truncated protein or causes nonsense mediated decay of the mRNA.

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