Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002143861 | SCV002467522 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003081027 | SCV003749695 | likely benign | Inborn genetic diseases | 2022-01-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155468 | SCV003844206 | likely benign | not specified | 2024-05-22 | criteria provided, single submitter | clinical testing | Variant summary: PCLO c.10767C>G (p.Asp3589Glu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00039 in 1613818 control chromosomes, predominantly at a frequency of 0.0066 within the African or African-American subpopulation in the gnomAD database, including 3 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in PCLO causing Pontocerebellar Hypoplasia Type 3 phenotype, suggesting the variant may be benign. To our knowledge, no occurrence of c.10767C>G in individuals affected with Pontocerebellar Hypoplasia Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1645353). Based on the evidence outlined above, the variant was classified as likely benign. |
| Breakthrough Genomics, |
RCV002143861 | SCV005270880 | benign | not provided | criteria provided, single submitter | not provided | ||
| Prevention |
RCV003923786 | SCV004738157 | likely benign | PCLO-related disorder | 2019-11-08 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |