ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.46G>A (p.Glu16Lys)

gnomAD frequency: 0.00001  dbSNP: rs760216520
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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 RCV002022402 SCV002296741 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2022-06-19 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with POMK-related conditions. This variant is present in population databases (rs760216520, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 16 of the POMK protein (p.Glu16Lys).
Ambry Genetics RCV002657683 SCV003711086 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.46G>A (p.E16K) alteration is located in exon 4 (coding exon 1) of the POMK gene. This alteration results from a G to A substitution at nucleotide position 46, causing the glutamic acid (E) at amino acid position 16 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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