ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)

gnomAD frequency: 0.00001  dbSNP: rs759686826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822456 SCV000963258 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2020-09-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 450 of the POMGNT2 protein (p.Thr450Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs759686826, ExAC 0.009%). This variant has not been reported in the literature in individuals with POMGNT2-related disease. 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: "Probably 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.

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