ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.436A>T (p.Thr146Ser)

dbSNP: rs1811932910
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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 RCV001317574 SCV001508243 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2020-03-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with POMK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 146 of the POMK protein (p.Thr146Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.

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