ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.773A>G (p.Gln258Arg)

gnomAD frequency: 0.00004  dbSNP: rs397509386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068653 SCV001233778 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 258 of the POMK protein (p.Gln258Arg). This variant is present in population databases (rs397509386, gnomAD 0.004%). This missense change has been observed in individual(s) with Walker-Warburg syndrome (PMID: 23519211). ClinVar contains an entry for this variant (Variation ID: 50611). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POMK protein function. Experimental studies have shown that this missense change affects POMK function (PMID: 23519211). 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.
OMIM RCV000043556 SCV000071333 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 2013-04-26 no assertion criteria provided literature only

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