ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2197del (p.Gln733fs)

dbSNP: rs1292248431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593976 SCV000702060 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767359 SCV004572783 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln733Argfs*10) in the POMT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the POMT2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMT2 protein in which other variant(s) (p.Trp748Arg) have been determined to be pathogenic (PMID: 17634419, 17869517; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 497508). This variant has not been reported in the literature in individuals affected with POMT2-related conditions.

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