Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235528 | SCV001408218 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with tyrosine at codon 737 of the DYSF protein (p.Asp737Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV004033284 | SCV004861664 | uncertain significance | Inborn genetic diseases | 2023-11-27 | criteria provided, single submitter | clinical testing | The c.2209G>T (p.D737Y) alteration is located in exon 23 (coding exon 23) of the DYSF gene. This alteration results from a G to T substitution at nucleotide position 2209, causing the aspartic acid (D) at amino acid position 737 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001834046 | SCV002079845 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-02-17 | no assertion criteria provided | clinical testing |