ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.520A>G (p.Thr174Ala)

dbSNP: rs753604559
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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 RCV001908287 SCV002155394 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2021-04-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 with POMK-related conditions. This variant is present in population databases (rs753604559, ExAC 0.006%). This sequence change replaces threonine with alanine at codon 174 of the POMK protein (p.Thr174Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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