Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV002472389 | SCV002769789 | likely pathogenic | Premature ovarian failure 10 | 2022-12-15 | criteria provided, single submitter | clinical testing | The c.1033C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, Indian Exome Database or our in-house exome database. The variant is present in ExAC and gnomAD at low frequencies. This variant has neither been published nor reported to clinical databases like Clinvar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted the variant to be likely deleterious. This variant creates a premature translational stop signal at the 345th amino acid position of the transcript, which may either result in translation of a truncated protein or cause nonsense-mediated decay of the mRNA. |
Revvity Omics, |
RCV002472389 | SCV004236323 | uncertain significance | Premature ovarian failure 10 | 2023-05-22 | criteria provided, single submitter | clinical testing |