Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680262 | SCV000747079 | likely pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268607 | SCV001447650 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001268607 | SCV003845500 | pathogenic | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing, although in the absence of functional evidence, the actual effect of this sequence change is unknown; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23955599, 28924389, 30158690, 31974170) |
Prevention |
RCV003892405 | SCV004709567 | likely pathogenic | SMC1A-related disorder | 2023-11-10 | no assertion criteria provided | clinical testing | The SMC1A c.2420G>A variant is predicted to result in the amino acid substitution p.Arg807His. This variant was reported de novo in an individual with cohesinopathy (Table 1, Yuan et al 2018. PubMed ID: 30158690). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic. |
Department of Human Genetics, |
RCV004576960 | SCV005060859 | uncertain significance | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2024-06-13 | flagged submission | clinical testing |