ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.68T>C (p.Leu23Pro)

gnomAD frequency: 0.00002  dbSNP: rs200277006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558003 SCV000654044 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2022-11-07 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt POMK protein function. ClinVar contains an entry for this variant (Variation ID: 474195). This variant has not been reported in the literature in individuals affected with POMK-related conditions. This variant is present in population databases (rs200277006, gnomAD 0.06%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 23 of the POMK protein (p.Leu23Pro).

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