Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732043 | SCV000859919 | uncertain significance | not provided | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001305248 | SCV001494577 | uncertain significance | Alpha-N-acetylgalactosaminidase deficiency type 1 | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with threonine at codon 328 of the NAGA protein (p.Met328Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs140356002, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with NAGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 596276). 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. 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. |
Mayo Clinic Laboratories, |
RCV000732043 | SCV001713911 | uncertain significance | not provided | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243282 | SCV003941485 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.983T>C (p.M328T) alteration is located in exon 8 (coding exon 8) of the NAGA gene. This alteration results from a T to C substitution at nucleotide position 983, causing the methionine (M) at amino acid position 328 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |