ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) (rs747506380)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712829 SCV000340502 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000712829 SCV000573194 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing The S305R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S305R variant is observed in 53/34,420 (0.2%) alleles from individuals of Latino background (Lek et al., 2016). The S305R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with POMT1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000712829 SCV000843364 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764805 SCV000895950 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001041917 SCV001205569 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 305 of the POMT1 protein (p.Ser305Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs747506380, ExAC 0.09%). This variant has not been reported in the literature in individuals with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 286908). 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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