Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670146 | SCV000794966 | likely pathogenic | Renal tubular acidosis with progressive nerve deafness | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760546 | SCV000890437 | likely pathogenic | not provided | 2018-08-21 | criteria provided, single submitter | clinical testing | The R315X variant in the ATP6V1B1 gene has been reported previously in association with distal renal tubular acidosis, in an affected individual who was heterozygous for the R315X variant and another ATP6V1B1 variant, however parental studies were not performed to determine the phase of these two variants (Palazzo et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R315X variant is observed in 5/277140 (0.002%) alleles in large population cohorts (Lek et al., 2016). We interpret R315X as a likely pathogenic variant. |
Fulgent Genetics, |
RCV000670146 | SCV000894287 | pathogenic | Renal tubular acidosis with progressive nerve deafness | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000760546 | SCV001584361 | pathogenic | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with distal renal tubular acidosis (PMID: 28233610). ClinVar contains an entry for this variant (Variation ID: 554499). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs145536062, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg315*) in the ATP6V1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V1B1 are known to be pathogenic (PMID: 9916796, 18368028). |