ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.3G>C (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs757689822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351713 SCV001546207 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2022-10-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the POMK mRNA. The next in-frame methionine is located at codon 27. This variant is present in population databases (rs757689822, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with POMK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047054). 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.

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