Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Broad Center for Mendelian Genomics, |
RCV001004873 | SCV001164354 | uncertain significance | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2018-12-03 | criteria provided, single submitter | research | The heterozygous p.Ser268Leu variant in AHDC1 was identified by our study in one parent and one child, both with Xia-Gibbs syndrome. The p.Ser268Leu variant in AHDC1 has not been previously reported in individuals with Xia-Gibbs syndrome but has been identified in 0.009997% (11/110036) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs751818701). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ser268Leu variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4 (Richards 2015). |
| Invitae | RCV002551717 | SCV003456402 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002551716 | SCV003683812 | likely benign | Inborn genetic diseases | 2022-07-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |