ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) (rs757903559)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591710 SCV000708845 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000819538 SCV000960203 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 66 of the POMT1 protein (p.Pro66Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs757903559, ExAC 0.05%). This variant has been observed in combination with another POMT1 variant in an individual affected with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 30060766). ClinVar contains an entry for this variant (Variation ID: 502200). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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