Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490403 | SCV000267316 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV000234557 | SCV000285819 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg203*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). This variant is present in population databases (rs746763506, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with FKTN-related disease (PMID: 11165248, 20961758, 26809617). ClinVar contains an entry for this variant (Variation ID: 225359). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000255310 | SCV000322218 | pathogenic | not provided | 2020-06-22 | criteria provided, single submitter | clinical testing | Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 225359; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20961758, 25525159, 11165248, 26809617, 28688748, 14627679) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590733 | SCV000698717 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2016-05-06 | criteria provided, single submitter | clinical testing | Variant summary: The FKTN variant, c.607C>T (p.Arg203X) causes a nonsense mutation in exon 5 resulting in a premature termination codon, a known mechanism for disease, as these types of variants are predicted to cause transcript degradation through nonsense mediated decay or produce a truncated protein. The varinat of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121290, which does not exceed the estimated maximum expected allele frequency for a pathogenic FKTN variant of 1/200 for Fukuyama Congenital Muscular Dystrophy. The variant of interest has been reported in multiple affected individuals dx with Fukuyama Congenital Muscular Dystrophy (patient was homozygous for variant) and Muscular dystrophy-dystroglycanopathy(limb-girdle) via publications. One reputable database cites the variant as disease-causing. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Pathogenic. |
Counsyl | RCV000590733 | SCV000790450 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503833 | SCV002797302 | pathogenic | Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2022-04-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001594387 | SCV004199739 | pathogenic | Dilated cardiomyopathy 1X | 2023-05-11 | criteria provided, single submitter | clinical testing | |
KTest Genetics, |
RCV001594387 | SCV001499958 | pathogenic | Dilated cardiomyopathy 1X | no assertion criteria provided | clinical testing |