Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002238306 | SCV002508778 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U | 2021-03-03 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ISPD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 428 of the ISPD protein (p.Gln428Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. |
| Ambry Genetics | RCV004047308 | SCV004850367 | uncertain significance | not specified | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.1282C>A (p.Q428K) alteration is located in exon 10 (coding exon 10) of the ISPD gene. This alteration results from a C to A substitution at nucleotide position 1282, causing the glutamine (Q) at amino acid position 428 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |