Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000438123 | SCV000511819 | pathogenic | not provided | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000438123 | SCV001250115 | pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000438123 | SCV001814104 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | Reported previously as a maternally inherited pathogenic variant in a patient with trismus-pseudocamptodactyly syndrome who also harbored a de novo pathogenic variant in a different gene consistent with a second disorder. It was thought that the combination of these two variants contributed to the more involved phenotype observed in this patient (Velmans et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17041932, 15282353, 18049072, 28377322, 20949528, 34321323, 33109698, 31630644) |
Victorian Clinical Genetics Services, |
RCV000015198 | SCV002557550 | pathogenic | Hecht syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to glutamine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v3) <0.001 for a dominant condition (2 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (5 heterozygotes, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated actin-binding region of the myosin motor domain (UniProt). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. The variant has previously been reported as pathogenic in more than ten unrelated individuals with trismus-pseudocamptodactyly syndrome (MIM#158300) (ClinVar, HGMD, LOVD, PMIDs: 15282353, 17041932, 18049072, 20949528). (SP) 0901 - This variant has strong evidence for segregation with disease. The variant has previously been shown to segregate in affected individuals in several multigenerational families (PMIDs: 15282353, 17041932). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Revvity Omics, |
RCV000438123 | SCV003823600 | pathogenic | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015197 | SCV000035454 | pathogenic | Carney complex - trismus - pseudocamptodactyly syndrome | 2010-11-01 | no assertion criteria provided | literature only | |
OMIM | RCV000015198 | SCV000035455 | pathogenic | Hecht syndrome | 2010-11-01 | no assertion criteria provided | literature only |