Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208197 | SCV000263935 | likely pathogenic | Primary familial hypertrophic cardiomyopathy | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000263325 | SCV000338505 | uncertain significance | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000822468 | SCV000963270 | pathogenic | X-linked myopathy with postural muscle atrophy | 2024-01-20 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 255 of the FHL1 protein (p.Cys255Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy, hypertrophic cardiomyopathy, and distal myopathy (PMID: 25246303, 26857240). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 222635). 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. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000263325 | SCV001774078 | likely pathogenic | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#222635; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 33673806, 29926425, 25965631, 26857240, 25246303) |
Genome |
RCV000822468 | SCV001423261 | not provided | X-linked myopathy with postural muscle atrophy | no assertion provided | phenotyping only | Variant interpretted as Likely pathogenic and reported on 01-11-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |