Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV001806311 | SCV002053814 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2N | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV001869563 | SCV002250530 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 171 of the POMT2 protein (p.Ser171Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of POMT2-related conditions (PMID: 17559086). ClinVar contains an entry for this variant (Variation ID: 1332737). 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. |
Revvity Omics, |
RCV003132537 | SCV003809735 | uncertain significance | not provided | 2021-12-17 | criteria provided, single submitter | clinical testing |