Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001335485 | SCV001528642 | uncertain significance | X-linked progressive cerebellar ataxia | 2018-04-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Missense changes in ATP2B3 have been previously reported in patients with abnormality of the nervous system [PMID: 26633542] and developmental delay, intellectual disability, microcephaly, hypotonia, muscle atrophy & oropharyngeal anomalies [PMID: 27435318] |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509665 | SCV002819605 | uncertain significance | not specified | 2022-12-16 | criteria provided, single submitter | clinical testing | Variant summary: ATP2B3 c.2158G>C (p.Gly720Arg) results in a non-conservative amino acid change located in the P-type ATPase, haloacid dehalogenase domain (IPR004608) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182920 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2158G>C in individuals affected with X-Linked Progressive Cerebellar Ataxia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |