ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.905T>A (p.Val302Asp)

gnomAD frequency: 0.00002  dbSNP: rs199756983
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Total submissions: 4
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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, Revvity RCV001781486 SCV002024721 likely pathogenic not provided 2019-11-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago 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

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