Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364854 | SCV001561041 | uncertain significance | Myofibrillar myopathy 3 | 2023-06-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 1056080). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 150 of the MYOT protein (p.Ile150Thr). |
Gene |
RCV003227966 | SCV003924838 | uncertain significance | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003346520 | SCV004057775 | uncertain significance | Inborn genetic diseases | 2023-09-12 | criteria provided, single submitter | clinical testing | The c.449T>C (p.I150T) alteration is located in exon 3 (coding exon 2) of the MYOT gene. This alteration results from a T to C substitution at nucleotide position 449, causing the isoleucine (I) at amino acid position 150 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003227966 | SCV004227125 | uncertain significance | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing |