Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV002254397 | SCV002525540 | uncertain significance | Polycystic kidney disease 4 | 2022-04-20 | criteria provided, single submitter | clinical testing | The c.10129G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC and Indian Exome Database. The heterozygous state of the variant is present in gnomAD, at a very low frequency. The variant is not present in our in-house exome database. The variant was not previously reported to Clinvar, HGMD and/or OMIM databases, 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 any published functional studies. |