Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001570621 | SCV001794946 | likely pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31069529, 27535533, 16701995, 18513969, 11053679, 17878207, 19299310) |
Prevention |
RCV003415634 | SCV004114012 | likely pathogenic | POMT2-related disorder | 2022-09-01 | criteria provided, single submitter | clinical testing | The POMT2 c.1057G>A variant is predicted to result in the amino acid substitution p.Gly353Ser. This variant was reported as causative in the compound heterozygous state in two patients with congenital muscular dystrophy with brain and eye anomalies (Mercuri et al. 2006. PubMed ID: 16701995; Godfrey et al. 2007. PubMed ID:17878207; Messina et al. 2008. PubMed ID: 18513969). This variant was observed in the homozygous or heterozygous states along with another pathogenic variant in three patients undergoing congenital muscular dystrophy testing at PreventionGenetics. This variant is reported in 0.0035% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-77762566-C-T). This variant is interpreted as likely pathogenic. |
Baylor Genetics | RCV000003387 | SCV004204109 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2024-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003387 | SCV000023545 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2006-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000030875 | SCV000023547 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2009-05-26 | no assertion criteria provided | literature only |