Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078868 | SCV000110728 | benign | not specified | 2015-08-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000544997 | SCV000514139 | likely benign | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086335 | SCV000650285 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000544997 | SCV001145081 | benign | not provided | 2019-07-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000544997 | SCV001155537 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000078868 | SCV004804117 | likely benign | not specified | 2024-01-04 | criteria provided, single submitter | clinical testing | Variant summary: PLEC1 c.4637C>T (p.Ser1546Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0013 in 1566678 control chromosomes, predominantly at a frequency of 0.0015 within the Non-Finnish European subpopulation, including 1 homozygotes, and a frequency of 0.0037 in the Finnish European population in the gnomAD database (v 4.0.0). To our knowledge, no occurrence of c.4637C>T in individuals affected with PLEC1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as benign/likely benign (n=4) and VUS (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Laboratory of Diagnostic Genome Analysis, |
RCV000544997 | SCV002036559 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000544997 | SCV002038079 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004737185 | SCV005347344 | likely benign | PLEC-related disorder | 2024-08-19 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |