ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) (rs1555351894)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648178 SCV000769992 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2018-01-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the POMT2 gene (p.Thr585Argfs*194). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 166 amino acids of the POMT2 protein and extend it by 27 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POMT2-related disease. A missense substitution in the region disrupted by this variant (p.Tyr666Cys) has been determined to be likely pathogenic (PMID: 17634419, 28980384, 24002165). This suggests that the tyrosine residue is critical for POMT2 protein function and that disruption of this position may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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