Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001007585 | SCV001167231 | uncertain significance | Autosomal recessive pseudohypoaldosteronism type 1 | 2019-10-21 | criteria provided, single submitter | clinical testing | SCNN1G c.1177-7C>T has not been reported in ClinVar nor the literature, to our knowledge. This SCNN1G variant (rs1488754125) is rare (<0.1%) in a large population dataset (gnomAD: 1/251356 total alleles; 0.0003978%; no homozygotes). Bioinformatic analysis predicts that this intronic variant would not affect normal exon 8 splicing although this has not been confirmed experimentally to our knowledge. Due to lack of segregation information and functional data, we consider the clinical significance of c.1177-7C>T to be uncertain at this time. |