Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV001527393 | SCV001738385 | uncertain significance | Hepatocellular carcinoma | 2021-03-09 | criteria provided, single submitter | clinical testing | The c.5691C>T variant is present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and dbSNP at a very low frequency, only in heterozygous state. The heterozygous state of the variant is present in Indian Exome Database [Kausthubham et al. Hum Mutat, 2021] and in our in-house exome database at a low frequency. The variant was not reported earlier to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. In-silico pathogenicity programs like MutationTaster2 and CADD predicted this variant as likely deleterious. The distance of the variant from intron-exon junction is 5 bp and may affect the splicing by significantly altering Exonic Splice Enhancer (ESE)/ Exonic Splice Silencer (ESS) motifs as predicted by Human Splice Finder (HSF3.1). However there are no proven or established functional studies reported to prove its pathogenicity. Due to lack of enough evidence the variant has been classified as uncertain significance. |