Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552911 | SCV000654052 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2022-08-15 | 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. Experimental studies have shown that this missense change affects POMK function (PMID: 27879205). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 160349). This missense change has been observed in individual(s) with autosomal recessive Walker Warburg Syndrome (PMID: 24925318). This variant is present in population databases (rs199756983, gnomAD 0.009%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 302 of the POMK protein (p.Val302Asp). |
Revvity Omics, |
RCV001781486 | SCV002024721 | likely pathogenic | not provided | 2019-11-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818339 | SCV002066886 | uncertain significance | not specified | 2017-11-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000148016 | SCV000195516 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 2014-11-01 | no assertion criteria provided | literature only |