Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000015202 | SCV000998854 | pathogenic | Freeman-Sheldon syndrome | 2019-08-21 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Arthrogryposis, distal, type 2A (Freeman-Sheldon), autosomal dominant. The following ACMG Tag(s) were applied: PP3, PM2, PS4-Supporting, PM1, PS3, PM6-Strong. |
SIB Swiss Institute of Bioinformatics | RCV000778060 | SCV000998855 | pathogenic | Arthrogryposis, distal, type 2B3 | 2019-08-21 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Arthrogryposis, distal, type 2B3 (Sheldon-Hall), autosomal dominant. The following ACMG Tag(s) were applied: PP3, PM2, PS4-Supporting, PM1, PS3, PM6-Strong. |
DASA | RCV001849265 | SCV002107100 | pathogenic | MYH3-related disorder | 2022-03-05 | criteria provided, single submitter | clinical testing | Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 30826400) - PS3_moderate.The c.533C>T;p.(Thr178Ile) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 14140; PMID: 25256237; PMID: 30826400; PMID: 18695058) - PS4. The variant is located in a mutational hot spot and/or critical and well-established functional domain (Myosin_head) - PM1. This variant is not present in population databases (rs121913619- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 18695058) - PM6. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic. |
Invitae | RCV001529266 | SCV004296742 | pathogenic | not provided | 2023-04-10 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with autosomal dominant arthrogryposis multiplex congenita (PMID: 16642020, 34136434). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 14140). This variant is also known as 602C->T. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 178 of the MYH3 protein (p.Thr178Ile). |
OMIM | RCV000015202 | SCV000035459 | pathogenic | Freeman-Sheldon syndrome | 2008-08-01 | no assertion criteria provided | literature only | |
OMIM | RCV000778060 | SCV000914179 | pathogenic | Arthrogryposis, distal, type 2B3 | 2008-08-01 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV001529266 | SCV001742420 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529266 | SCV001959559 | pathogenic | not provided | no assertion criteria provided | clinical testing |