ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) (rs727502853)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150014 SCV000196874 uncertain significance Congenital muscular dystrophy 2014-04-24 criteria provided, single submitter clinical testing c.1569_1574dupGCGGGA: p.Arg526_Glu527dup in exon 16 in the POMT1 gene (NM_007171.3). The normal sequence with the base(s) that are inserted in braces is: GGGA{GCGGGA}ACGGGA. The c.1569_1574dupGCGGGA variant in the POMT1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.1569_1574dupGCGGGA variant causes an in-frame duplication that results in insertion of two amino acids, Arginine 526 and Glutamine 527, denoted p.Arg526_Glu527ins. The c.1569_1574dupGCGGGA variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1569_1574dupGCGGGA as a variant of unknown significance. The variant is found in POMT1 panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595188 SCV000706089 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV001301735 SCV001490913 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-08-28 criteria provided, single submitter clinical testing This variant, c.1569_1574dup, results in the insertion of 2 amino acid(s) to the POMT1 protein (p.Arg526_Glu527dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 162593). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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