ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) (rs746849558)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558807 SCV000649874 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with serine at codon 486 of the POMT1 protein (p.Trp486Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is present in population databases (rs746849558, ExAC 0.01%). This variant has been reported in the compound heterozygous state in two individuals affected with muscular dystrophy and intellectual disability (PMID: 27193224). 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, this variant has uncertain impact on POMT1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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